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Gene: FOXN1 (forkhead box N1) Homo sapiens

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Symbol:

FOXN1

Name:

forkhead box N1

RGD ID:

1349825

HGNC Page

HGNC:12765

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of epithelial cell differentiation. Predicted to be located in chromatin. Implicated in T-cell immunodeficiency, congenital alopecia, and nail dystrophy; alopecia; nail disease; and primary immunodeficiency disease.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FKHL20; forkhead box protein N1; RONU; Rowett nude; TIDAND; TLIND; WHN; winged helix nude; winged-helix nude; winged-helix transcription factor nude

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Foxn1 (forkhead box N1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Foxn1 (forkhead box N1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Foxn1 (forkhead box N1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FOXN1 (forkhead box N1)	NCBI	Ortholog
Canis lupus familiaris (dog):	FOXN1 (forkhead box N1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Foxn1 (forkhead box N1)	NCBI	Ortholog
Sus scrofa (pig):	FOXN1 (forkhead box N1)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	FOXN1 (forkhead box N1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Foxn1 (forkhead box N1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Fes (FES proto-oncogene, tyrosine kinase)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Foxn1 (forkhead box N1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Foxn1 (forkhead box N1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	foxn1 (forkhead box N1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	jumu	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector)
Xenopus tropicalis (tropical clawed frog):	foxn1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	foxn1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	foxn1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	nr2f6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	foxn1.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	28,506,243 - 28,538,900 (+)	Ensembl			hg38	GRCh38
GRCh37	17	26,833,366 - 26,865,918 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	23,875,086 - 23,889,302 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	17	23,875,085 - 23,889,302	NCBI
Celera	17	23,709,983 - 23,724,203 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	23,059,775 - 23,073,995 (+)	NCBI		HuRef
CHM1_1	17	26,912,657 - 26,926,877 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alopecia (IAGP)

autistic disorder (IAGP)

DiGeorge syndrome (ISS)

genetic disease (IAGP)

nail disease (IAGP)

primary immunodeficiency disease (IAGP)

severe combined immunodeficiency (IAGP)

T cell deficiency (IAGP)

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (EXP,IAGP,ISS)

T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (IAGP)

Thymus Hyperplasia (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3-methylcholanthrene (EXP)

aflatoxin B1 (EXP)

alpha-Zearalanol (ISO)

arsane (EXP)

arsenic atom (EXP)

atrazine (ISO)

benzalkonium chloride (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium atom (EXP)

CGP 52608 (EXP)

clofibrate (ISO)

furan (ISO)

gentamycin (ISO)

hydrazine (ISO)

N-ethyl-N-nitrosourea (ISO)

okadaic acid (EXP)

paracetamol (ISO)

perfluorooctanoic acid (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP)

sodium dodecyl sulfate (EXP)

trichloroethene (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ morphogenesis (TAS)

blood vessel morphogenesis (IEA)

cell differentiation (IEA)

defense response (TAS)

epidermis development (IEA,TAS)

hair follicle development (IEA)

hemopoiesis (IEA)

keratinocyte differentiation (IEA,ISO)

lymphocyte homeostasis (IEA)

lymphoid lineage cell migration into thymus (IEA)

nail development (IEA)

positive regulation of epithelial cell differentiation (IDA)

positive regulation of hair follicle development (IEA)

positive regulation of transcription by RNA polymerase II (IEA)

regulation of DNA-templated transcription (IEA)

regulation of gene expression (IEA)

regulation of positive thymic T cell selection (IEA)

regulation of T cell differentiation in thymus (IEA)

regulation of transcription by RNA polymerase II (IBA,TAS)

T cell homeostasis (IEA)

T cell lineage commitment (IEA)

thymus development (IEA,ISO)

thymus epithelium morphogenesis (IEA)

Cellular Component

chromatin (ISA)

nucleus (IEA,TAS)

Molecular Function

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IEA)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

protein binding (IPI)

sequence-specific DNA binding (IEA)

transcription cis-regulatory region binding (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormally low T cell receptor excision circle level (IAGP)

Alopecia (IAGP)

Aplasia of the thymus (IAGP)

Atopic dermatitis (IAGP)

Atypical or prolonged hepatitis (IAGP)

Autism (IAGP)

Autoimmunity (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Cellular immunodeficiency (IAGP)

Chronic oral candidiasis (IAGP)

Chronic otitis media (IAGP)

Combined immunodeficiency (IAGP)

Congenital alopecia totalis (IAGP)

Coombs-positive hemolytic anemia (IAGP)

Decreased mitogen-induced T-cell proliferation (IAGP)

Decreased proportion of CD4-positive T cells (IAGP)

Decreased proportion of naive T cells (IAGP)

Decreased total T cell count (IAGP)

Diarrhea (IAGP)

Eczematoid dermatitis (IAGP)

Failure to thrive (IAGP)

Hypocalcemic tetany (IAGP)

Hypothyroidism (IAGP)

Immunodeficiency (IAGP)

Invasive fungal infection (IAGP)

Lymphadenopathy (IAGP)

Malabsorption (IAGP)

Meningitis (IAGP)

Nail dystrophy (IAGP)

Nail pits (IAGP)

Oligoclonal T cell expansion (IAGP)

Opportunistic infection (IAGP)

Pneumonia (IAGP)

Recurrent bacterial infections (IAGP)

Recurrent candida infections (IAGP)

Recurrent infection of the gastrointestinal tract (IAGP)

Recurrent infections (IAGP)

Recurrent Staphylococcus aureus infections (IAGP)

Recurrent streptococcus pneumoniae infections (IAGP)

Recurrent upper respiratory tract infections (IAGP)

Recurrent urinary tract infections (IAGP)

Ridged nail (IAGP)

Sepsis (IAGP)

Severe combined immunodeficiency (IAGP)

Severe infection (IAGP)

Severe T-cell immunodeficiency (IAGP)

Severe viral infection (IAGP)

Sinusitis (IAGP)

Thyroiditis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Exposing the human nude phenotype.	Frank J, etal., Nature. 1999 Apr 8;398(6727):473-4.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Hypomorphic phenotype of Foxn1 gene-modified rats by CRISPR/Cas9 system.	Goto T, etal., Transgenic Res. 2016 Aug;25(4):533-44. doi: 10.1007/s11248-016-9941-9. Epub 2016 Mar 2.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7969402	PMID:9321431	PMID:10483588	PMID:10767081	PMID:15180707	PMID:15316080	PMID:16232301	PMID:17592270	PMID:17803914	PMID:19274049	PMID:19729838	PMID:20429426
PMID:20634891	PMID:21507891	PMID:21873635	PMID:22721479	PMID:23922987	PMID:24383669	PMID:25173801	PMID:25609649	PMID:26352270	PMID:28636882	PMID:28819138	PMID:31447097
PMID:31566583	PMID:31914405	PMID:32296183	PMID:33464451	PMID:34373451	PMID:35527675	PMID:35675826	PMID:36631020	PMID:37419334	PMID:37788672	PMID:38334954

Genomics

Comparative Map Data

FOXN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	28,506,243 - 28,538,900 (+)	Ensembl			hg38	GRCh38
GRCh37	17	26,833,366 - 26,865,918 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	23,875,086 - 23,889,302 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	17	23,875,085 - 23,889,302	NCBI
Celera	17	23,709,983 - 23,724,203 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	23,059,775 - 23,073,995 (+)	NCBI		HuRef
CHM1_1	17	26,912,657 - 26,926,877 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI		T2T-CHM13v2.0

Foxn1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	78,248,403 - 78,277,597 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	78,248,403 - 78,277,384 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	11	78,357,577 - 78,386,783 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	78,357,577 - 78,386,558 (-)	Ensembl			mm10	GRCm38
MGSCv37	11	78,171,790 - 78,200,060 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	11	78,174,483 - 78,202,753 (-)	NCBI		MGSCv36	mm8
Celera	11	87,990,370 - 88,018,640 (-)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	46.74	NCBI

Foxn1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	63,749,461 - 63,778,468 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	10	63,749,461 - 63,771,771 (-)	Ensembl				GRCr8
mRatBN7.2	10	63,251,400 - 63,273,710 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	63,251,400 - 63,273,710 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	10	67,883,721 - 67,906,099 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	67,389,050 - 67,411,428 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	62,860,147 - 62,882,662 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	65,621,142 - 65,634,666 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	65,621,257 - 65,634,666 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	10	66,004,940 - 66,030,134 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	10	64,243,323 - 64,256,847 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	10	62,229,663 - 62,243,188 (-)	NCBI		Celera
Cytogenetic Map	10	q25	NCBI

Foxn1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955481	4,611,087 - 4,627,113 (-)	Ensembl
ChiLan1.0	NW_004955481	4,611,246 - 4,640,606 (-)	NCBI	ChiLan1.0	ChiLan1.0

FOXN1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	35,921,399 - 35,954,659 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	37,801,555 - 37,834,927 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	28,237,150 - 28,272,010 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	28,740,775 - 28,773,592 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	28,740,775 - 28,773,592 (-)	Ensembl			panPan2	panpan1.1

FOXN1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	42,734,228 - 42,749,856 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	42,735,656 - 42,748,632 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	41,878,088 - 41,906,518 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	43,540,303 - 43,568,825 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	43,540,213 - 43,567,599 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	42,323,418 - 42,351,882 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	42,615,833 - 42,644,325 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	42,693,335 - 42,721,782 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Foxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	41,839,546 - 41,868,057 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	4,731,958 - 4,744,796 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	4,717,509 - 4,745,504 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FOXN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	44,765,258 - 44,795,260 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	12	44,764,427 - 44,796,138 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	46,757,094 - 46,780,509 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FOXN1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	22,291,597 - 22,306,977 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	22,292,330 - 22,305,968 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666075	7,819,856 - 7,835,084 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Foxn1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624786	1,114,305 - 1,127,683 (+)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624786	1,114,305 - 1,127,787 (+)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in FOXN1
747 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001369369.1(FOXN1):c.1757G>A (p.Cys586Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000546006]	Chr17:28537246 [GRCh38] Chr17:26864264 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter)	single nucleotide variant	Severe combined immunodeficiency disease [RCV004799737]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000009300]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027389]	Chr17:28529157 [GRCh38] Chr17:26856175 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001859402]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001564041]\|not provided [RCV001780407]	Chr17:28534934..28534937 [GRCh38] Chr17:26861952..26861955 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.930A>G (p.Thr310=)	single nucleotide variant	FOXN1-related disorder [RCV003905410]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000547211]	Chr17:28534333 [GRCh38] Chr17:26861351 [GRCh37] Chr17:17q11.2	likely benign
NM_003593.2(FOXN1):c.53G>A (p.Arg18Lys)	single nucleotide variant	Malignant melanoma [RCV000071378]	Chr17:28524022 [GRCh38] Chr17:26851040 [GRCh37] Chr17:23875167 [NCBI36] Chr17:17q11.2	not provided
NM_001369369.1(FOXN1):c.1753C>T (p.Pro585Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001303087]	Chr17:28537242 [GRCh38] Chr17:26864260 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	copy number gain	See cases [RCV000136494]	Chr17:28283125..28904397 [GRCh38] Chr17:26610151..27231415 [GRCh37] Chr17:23634278..24255541 [NCBI36] Chr17:17q11.2	benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	copy number gain	not provided [RCV000762776]	Chr17:25403446..31685464 [GRCh37] Chr17:17q11.1-11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1289C>T (p.Pro430Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000552110]	Chr17:28534860 [GRCh38] Chr17:26861878 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1443G>T (p.Leu481=)	single nucleotide variant	FOXN1-related disorder [RCV003950098]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000283804]	Chr17:28535014 [GRCh38] Chr17:26862032 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000286412]\|not provided [RCV001824734]\|not specified [RCV000432702]	Chr17:28524584 [GRCh38] Chr17:26851602 [GRCh37] Chr17:17q11.2	benign\|not provided
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000287570]	Chr17:28537146 [GRCh38] Chr17:26864164 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000261534]	Chr17:28534755 [GRCh38] Chr17:26861773 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.*206G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000299445]	Chr17:28537642 [GRCh38] Chr17:26864660 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*454A>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000264607]	Chr17:28537890 [GRCh38] Chr17:26864908 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000308164]	Chr17:28524929 [GRCh38] Chr17:26851947 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.*620C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000270507]	Chr17:28538056 [GRCh38] Chr17:26865074 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000344775]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001838998]	Chr17:28537195 [GRCh38] Chr17:26864213 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.714T>C (p.Gly238=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000368559]\|not provided [RCV004709583]\|not specified [RCV000425758]	Chr17:28529108 [GRCh38] Chr17:26856126 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.589-12C>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000369814]	Chr17:28527239 [GRCh38] Chr17:26854257 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.539G>C (p.Trp180Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000348005]	Chr17:28524918 [GRCh38] Chr17:26851936 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*15C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000348384]	Chr17:28537451 [GRCh38] Chr17:26864469 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1135+3G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000320056]	Chr17:28534541 [GRCh38] Chr17:26861559 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000399481]\|not provided [RCV001824737]\|not specified [RCV000436902]	Chr17:28537284 [GRCh38] Chr17:28537284..28537285 [GRCh38] Chr17:26864302 [GRCh37] Chr17:26864302..26864303 [GRCh37] Chr17:17q11.2	benign\|not provided
NM_001369369.1(FOXN1):c.1549G>T (p.Asp517Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000322459]	Chr17:28535120 [GRCh38] Chr17:26862138 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1216G>A (p.Gly406Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000323469]	Chr17:28534787 [GRCh38] Chr17:26861805 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.279C>G (p.Leu93=)	single nucleotide variant	FOXN1-related disorder [RCV003940268]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000401710]\|not provided [RCV005425930]	Chr17:28524658 [GRCh38] Chr17:26851676 [GRCh37] Chr17:17q11.2	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000380418]\|not provided [RCV004703709]\|not specified [RCV000437225]	Chr17:28534859 [GRCh38] Chr17:26861877 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000309436]	Chr17:28524876 [GRCh38] Chr17:26851894 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1135+8C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000354028]\|not provided [RCV001824736]\|not specified [RCV000437443]	Chr17:28534546 [GRCh38] Chr17:28534546..28534547 [GRCh38] Chr17:26861564 [GRCh37] Chr17:26861564..26861565 [GRCh37] Chr17:17q11.2	benign\|not provided
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000378587]	Chr17:28524538 [GRCh38] Chr17:26851556 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.709G>A (p.Gly237Ser)	single nucleotide variant	Inborn genetic diseases [RCV005338142]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000311496]	Chr17:28529103 [GRCh38] Chr17:26856121 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*254G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000356658]\|not provided [RCV001613034]	Chr17:28537690 [GRCh38] Chr17:26864708 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1556T>A (p.Leu519Gln)	single nucleotide variant	FOXN1-related disorder [RCV004739684]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000384269]\|not provided [RCV000487106]	Chr17:28535127 [GRCh38] Chr17:26862145 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.*280C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000407493]	Chr17:28537716 [GRCh38] Chr17:26864734 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.226G>A (p.Glu76Lys)	single nucleotide variant	Inborn genetic diseases [RCV004975451]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000339213]	Chr17:28524605 [GRCh38] Chr17:26851623 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1195_1225del (p.Cys399fs)	deletion	not provided [RCV000379300]	Chr17:28534765..28534795 [GRCh38] Chr17:26861783..26861813 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.*626G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000384572]	Chr17:28538062 [GRCh38] Chr17:26865080 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.*154G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000399792]	Chr17:28537590 [GRCh38] Chr17:26864608 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000262673]\|not provided [RCV001824735]\|not specified [RCV000423496]	Chr17:28530770 [GRCh38] Chr17:26857788 [GRCh37] Chr17:17q11.2	benign\|not provided
NM_001369369.1(FOXN1):c.*300C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000299977]	Chr17:28537736 [GRCh38] Chr17:26864754 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000389956]\|not provided [RCV001726114]\|not specified [RCV000607210]	Chr17:28524925 [GRCh38] Chr17:26851943 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1206del (p.Leu404fs)	deletion	not provided [RCV000489462]	Chr17:28534777 [GRCh38] Chr17:26861795 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1822C>T (p.Leu608=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000295848]	Chr17:28537311 [GRCh38] Chr17:26864329 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*461C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000324471]	Chr17:28537897 [GRCh38] Chr17:26864915 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.611C>T (p.Pro204Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000391661]	Chr17:28527273 [GRCh38] Chr17:26854291 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*622C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000325378]	Chr17:28538058 [GRCh38] Chr17:26865076 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*318A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000359388]	Chr17:28537754 [GRCh38] Chr17:26864772 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*496C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000360378]	Chr17:28537932 [GRCh38] Chr17:26864950 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1436T>C (p.Leu479Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000806376]	Chr17:28535007 [GRCh38] Chr17:26862025 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.9G>A (p.Ser3=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000559329]\|not specified [RCV000613544]	Chr17:28523978 [GRCh38] Chr17:26850996 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.1247del (p.Pro416fs)	deletion	not provided [RCV005251186]	Chr17:28534814 [GRCh38] Chr17:26861832 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1445G>A (p.Arg482Gln)	single nucleotide variant	Inborn genetic diseases [RCV003243277]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001211654]\|not provided [RCV000728815]	Chr17:28535016 [GRCh38] Chr17:26862034 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000558396]\|not provided [RCV001559887]	Chr17:28524700 [GRCh38] Chr17:26851718 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.1425G>A (p.Pro475=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000532696]\|not specified [RCV000427402]	Chr17:28534996 [GRCh38] Chr17:26862014 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.962A>G (p.His321Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004772907]\|not provided [RCV000434343]	Chr17:28534365 [GRCh38] Chr17:26861383 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.123+11G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122374]\|not provided [RCV004705569]\|not specified [RCV000428546]	Chr17:28524103 [GRCh38] Chr17:26851121 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.573T>C (p.His191=)	single nucleotide variant	FOXN1-related disorder [RCV003942460]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001482344]\|not specified [RCV000428776]	Chr17:28524952 [GRCh38] Chr17:26851970 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+19A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001518291]\|not provided [RCV004709971]\|not specified [RCV000440280]	Chr17:28529243 [GRCh38] Chr17:26856261 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000531478]\|not specified [RCV000420167]	Chr17:28534786 [GRCh38] Chr17:26861804 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.124-20G>A	single nucleotide variant	FOXN1-related disorder [RCV003972585]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001518211]\|not provided [RCV004709970]\|not specified [RCV000420463]	Chr17:28524483 [GRCh38] Chr17:26851501 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.907del (p.Glu303fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004772933]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027399]\|not provided [RCV000479476]	Chr17:28530824 [GRCh38] Chr17:26857842 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1315del (p.Leu439fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046946]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV005055361]\|not provided [RCV000484215]	Chr17:28534882 [GRCh38] Chr17:26861900 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1168_1169del (p.Glu390fs)	microsatellite	not provided [RCV000478266]	Chr17:28534734..28534735 [GRCh38] Chr17:26861752..26861753 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1135+1_1135+2delinsAG	indel	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002526627]\|not provided [RCV000480185]	Chr17:28534539..28534540 [GRCh38] Chr17:26861557..26861558 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000555732]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027396]\|not provided [RCV000480423]	Chr17:28534759..28534774 [GRCh38] Chr17:26861777..26861792 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1710G>A (p.Ser570=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000892738]\|not provided [RCV004710080]\|not specified [RCV000508535]	Chr17:28537199 [GRCh38] Chr17:26864217 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004772949]\|not specified [RCV000506756]	Chr17:28534424 [GRCh38] Chr17:26861442 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001369369.1(FOXN1):c.79C>T (p.Leu27Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000530196]	Chr17:28524048 [GRCh38] Chr17:26851066 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644877]\|not provided [RCV003222076]	Chr17:28535189 [GRCh38] Chr17:26862207 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	copy number loss	Mitogen-activated protein kinase kinase inhibitor response [RCV000626439]	Chr17:25248166..30645676 [GRCh37] Chr17:17q11.1-11.2	drug response
NM_001369369.1(FOXN1):c.1444C>T (p.Arg482Trp)	single nucleotide variant	Inborn genetic diseases [RCV004975745]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644878]	Chr17:28535015 [GRCh38] Chr17:26862033 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.699+1G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644876]	Chr17:28527362 [GRCh38] Chr17:26854380 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.572A>G (p.His191Arg)	single nucleotide variant	Inborn genetic diseases [RCV003239790]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005061142]	Chr17:28524951 [GRCh38] Chr17:26851969 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.787G>A (p.Asp263Asn)	single nucleotide variant	Inborn genetic diseases [RCV002528912]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644875]	Chr17:28529181 [GRCh38] Chr17:26856199 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1476T>A (p.Pro492=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644883]	Chr17:28535047 [GRCh38] Chr17:26862065 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.537C>T (p.Ala179=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644882]	Chr17:28524916 [GRCh38] Chr17:26851934 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.62G>A (p.Gly21Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644880]	Chr17:28524031 [GRCh38] Chr17:26851049 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1697C>T (p.Pro566Leu)	single nucleotide variant	FOXN1-related disorder [RCV003945629]\|Inborn genetic diseases [RCV005338280]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644879]	Chr17:28537186 [GRCh38] Chr17:26864204 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001369369.1(FOXN1):c.892T>C (p.Tyr298His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000685861]	Chr17:28530810 [GRCh38] Chr17:26857828 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1445_1449delinsCCA (p.Arg482fs)	indel	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000699596]	Chr17:28535016..28535020 [GRCh38] Chr17:26862034..26862038 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.965A>G (p.Asn322Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000694714]	Chr17:28534368 [GRCh38] Chr17:26861386 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.724C>T (p.Pro242Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000694759]\|not provided [RCV003489817]	Chr17:28529118 [GRCh38] Chr17:26856136 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.610C>T (p.Pro204Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000692459]	Chr17:28527272 [GRCh38] Chr17:26854290 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1381G>A (p.Gly461Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000703851]	Chr17:28534952 [GRCh38] Chr17:26861970 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.194C>A (p.Pro65Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000692958]	Chr17:28524573 [GRCh38] Chr17:26851591 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.254G>A (p.Gly85Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000691339]	Chr17:28524633 [GRCh38] Chr17:26851651 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000767976]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224404]	Chr17:28524761 [GRCh38] Chr17:26851779 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000768224]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003227853]	Chr17:28535155 [GRCh38] Chr17:26862173 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.-14-163TC[23]	microsatellite	not provided [RCV001643776]	Chr17:28523792..28523793 [GRCh38] Chr17:26850810..26850811 [GRCh37] Chr17:17q11.2	benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001369369.1(FOXN1):c.1628-212C>T	single nucleotide variant	not provided [RCV001530627]	Chr17:28536905 [GRCh38] Chr17:26863923 [GRCh37] Chr17:17q11.2	benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2	copy number gain	not provided [RCV000739439]	Chr17:21279289..27474974 [GRCh37] Chr17:17p11.2-q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.588+166C>T	single nucleotide variant	not provided [RCV001724436]	Chr17:28525133 [GRCh38] Chr17:26852151 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1370del (p.His457fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004774422]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001678593]	Chr17:28534941 [GRCh38] Chr17:26861959 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.258C>T (p.Pro86=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002542315]	Chr17:28524637 [GRCh38] Chr17:26851655 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1232G>A (p.Arg411Gln)	single nucleotide variant	Inborn genetic diseases [RCV004029889]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001423789]\|not provided [RCV000960614]	Chr17:28534803 [GRCh38] Chr17:26861821 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.-14-69G>T	single nucleotide variant	not provided [RCV001574522]	Chr17:28523887 [GRCh38] Chr17:26850905 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.-14-163TC[16]	microsatellite	not provided [RCV001645164]	Chr17:28523793..28523800 [GRCh38] Chr17:26850811..26850818 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1135+9G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001409533]	Chr17:28534547 [GRCh38] Chr17:26861565 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.147G>C (p.Ser49=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509635]	Chr17:28524526 [GRCh38] Chr17:26851544 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1266A>G (p.Pro422=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001479163]	Chr17:28534837 [GRCh38] Chr17:26861855 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000948994]	Chr17:28534534 [GRCh38] Chr17:26861552 [GRCh37] Chr17:17q11.2	benign\|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.20C>T (p.Pro7Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000969002]	Chr17:28523989 [GRCh38] Chr17:26851007 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1064A>G (p.Lys355Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001044785]	Chr17:28534467 [GRCh38] Chr17:26861485 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.971C>A (p.Ser324Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001047401]	Chr17:28534374 [GRCh38] Chr17:26861392 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.905C>T (p.Thr302Met)	single nucleotide variant	Inborn genetic diseases [RCV003160381]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001048978]	Chr17:28530823 [GRCh38] Chr17:26857841 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1465del (p.Gln489fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078468]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV003147589]	Chr17:28535031 [GRCh38] Chr17:26862049 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.1207G>A (p.Gly403Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001061838]	Chr17:28534778 [GRCh38] Chr17:26861796 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.322G>A (p.Ala108Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001066157]	Chr17:28524701 [GRCh38] Chr17:26851719 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1783G>A (p.Gly595Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001071094]	Chr17:28537272 [GRCh38] Chr17:26864290 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1492C>T (p.Pro498Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001069570]	Chr17:28535063 [GRCh38] Chr17:26862081 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.41C>T (p.Pro14Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000793326]	Chr17:28524010 [GRCh38] Chr17:26851028 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.687C>T (p.Pro229=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001488109]	Chr17:28527349 [GRCh38] Chr17:26854367 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1812C>A (p.Gly604=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000896497]	Chr17:28537301 [GRCh38] Chr17:26864319 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1701ATC[1] (p.Ser570del)	microsatellite	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000813872]	Chr17:28537189..28537191 [GRCh38] Chr17:26864207..26864209 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.728_729dup (p.Pro244fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000821088]	Chr17:28529120..28529121 [GRCh38] Chr17:26856138..26856139 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.704C>T (p.Ser235Leu)	single nucleotide variant	Inborn genetic diseases [RCV004029141]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000823349]\|not provided [RCV001357686]	Chr17:28529098 [GRCh38] Chr17:26856116 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1709C>T (p.Ser570Leu)	single nucleotide variant	FOXN1-related disorder [RCV003411791]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000810409]	Chr17:28537198 [GRCh38] Chr17:26864216 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1283del (p.Pro428fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000810199]	Chr17:28534852 [GRCh38] Chr17:26861870 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.961C>A (p.His321Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000821655]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027395]	Chr17:28534364 [GRCh38] Chr17:26861382 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000824264]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027398]	Chr17:28534960..28534969 [GRCh38] Chr17:26861978..26861987 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000798236]	Chr17:28530798 [GRCh38] Chr17:26857816 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1429G>A (p.Gly477Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000818143]	Chr17:28535000 [GRCh38] Chr17:26862018 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000818184]	Chr17:28534991 [GRCh38] Chr17:26862009 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.82A>G (p.Met28Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000814715]	Chr17:28524051 [GRCh38] Chr17:26851069 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1412T>G (p.Leu471Trp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000815000]	Chr17:28534983 [GRCh38] Chr17:26862001 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.950A>C (p.Asn317Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000808860]	Chr17:28534353 [GRCh38] Chr17:26861371 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000813095]	Chr17:28534377 [GRCh38] Chr17:26861395 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1749del (p.Cys586fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000815804]\|not specified [RCV003479225]	Chr17:28537238 [GRCh38] Chr17:26864256 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.376T>C (p.Tyr126His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000823737]	Chr17:28524755 [GRCh38] Chr17:26851773 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.970T>A (p.Ser324Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000797866]	Chr17:28534373 [GRCh38] Chr17:26861391 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1086dup (p.Trp363fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000792460]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005021193]	Chr17:28534484..28534485 [GRCh38] Chr17:26861502..26861503 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1178G>A (p.Gly393Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000802745]	Chr17:28534749 [GRCh38] Chr17:26861767 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.832A>G (p.Ile278Val)	single nucleotide variant	Inborn genetic diseases [RCV002536959]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000793325]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002487652]\|not provided [RCV004692250]	Chr17:28530750 [GRCh38] Chr17:26857768 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1315C>A (p.Leu439Met)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000795974]	Chr17:28534886 [GRCh38] Chr17:26861904 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1050G>A (p.Pro350=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000795694]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224472]\|not provided [RCV004693265]	Chr17:28534453 [GRCh38] Chr17:26861471 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.1811G>T (p.Gly604Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000807963]	Chr17:28537300 [GRCh38] Chr17:26864318 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1454C>T (p.Pro485Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000794643]	Chr17:28535025 [GRCh38] Chr17:26862043 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.547G>A (p.Gly183Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001231065]\|not provided [RCV003145439]	Chr17:28524926 [GRCh38] Chr17:26851944 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.163G>A (p.Gly55Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001202995]	Chr17:28524542 [GRCh38] Chr17:26851560 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.92C>T (p.Pro31Leu)	single nucleotide variant	Inborn genetic diseases [RCV004034605]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001239259]	Chr17:28524061 [GRCh38] Chr17:26851079 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.161A>G (p.Asp54Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001225842]	Chr17:28524540 [GRCh38] Chr17:26851558 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.764G>A (p.Arg255Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001209424]	Chr17:28529158 [GRCh38] Chr17:26856176 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.890T>C (p.Ile297Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226768]	Chr17:28530808 [GRCh38] Chr17:26857826 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1632C>G (p.Asn544Lys)	single nucleotide variant	Inborn genetic diseases [RCV005340711]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001238360]	Chr17:28537121 [GRCh38] Chr17:26864139 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.63C>T (p.Gly21=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226381]	Chr17:28524032 [GRCh38] Chr17:26851050 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1895C>T (p.Ala632Val)	single nucleotide variant	Inborn genetic diseases [RCV004978149]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226049]	Chr17:28537384 [GRCh38] Chr17:26864402 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NM_001369369.1(FOXN1):c.436G>A (p.Gly146Arg)	single nucleotide variant	Inborn genetic diseases [RCV003246162]	Chr17:28524815 [GRCh38] Chr17:26851833 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.123+10C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122373]	Chr17:28524102 [GRCh38] Chr17:26851120 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)	single nucleotide variant	FOXN1-related disorder [RCV003945835]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122479]	Chr17:28535125 [GRCh38] Chr17:26862143 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125265]	Chr17:28537304 [GRCh38] Chr17:26864322 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.*53C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126240]	Chr17:28537489 [GRCh38] Chr17:26864507 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*165C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126242]\|not provided [RCV004694785]	Chr17:28537601 [GRCh38] Chr17:26864619 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1231C>T (p.Arg411Trp)	single nucleotide variant	Inborn genetic diseases [RCV002560289]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001201607]	Chr17:28534802 [GRCh38] Chr17:26861820 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.700-301G>A	single nucleotide variant	not provided [RCV001608485]	Chr17:28528793 [GRCh38] Chr17:26855811 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.589-110A>T	single nucleotide variant	not provided [RCV001557089]	Chr17:28527141 [GRCh38] Chr17:26854159 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.-14-45del	deletion	not provided [RCV001593803]	Chr17:28523911 [GRCh38] Chr17:26850929 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-178G>C	single nucleotide variant	not provided [RCV001682514]	Chr17:28534153 [GRCh38] Chr17:26861171 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.699+156C>T	single nucleotide variant	not provided [RCV001551902]	Chr17:28527517 [GRCh38] Chr17:26854535 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1800G>A (p.Pro600=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001491069]	Chr17:28537289 [GRCh38] Chr17:26864307 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met)	single nucleotide variant	Inborn genetic diseases [RCV003169258]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000902966]	Chr17:28537375 [GRCh38] Chr17:26864393 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1472C>T (p.Ser491Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001470575]	Chr17:28535043 [GRCh38] Chr17:26862061 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000930514]	Chr17:28534390 [GRCh38] Chr17:26861408 [GRCh37] Chr17:17q11.2	likely benign\|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.1401C>T (p.Pro467=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413613]	Chr17:28534972 [GRCh38] Chr17:26861990 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.362C>T (p.Ala121Val)	single nucleotide variant	FOXN1-related disorder [RCV003955884]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001514521]	Chr17:28524741 [GRCh38] Chr17:26851759 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.928-6C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413980]	Chr17:28534325 [GRCh38] Chr17:26861343 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1883C>A (p.Pro628His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001242621]	Chr17:28537372 [GRCh38] Chr17:26864390 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.133G>A (p.Gly45Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001054967]	Chr17:28524512 [GRCh38] Chr17:26851530 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1612G>A (p.Asp538Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001067880]	Chr17:28535183 [GRCh38] Chr17:26862201 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128213]	Chr17:28534774 [GRCh38] Chr17:26861792 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.*323G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128292]	Chr17:28537759 [GRCh38] Chr17:26864777 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*533G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128293]	Chr17:28537969 [GRCh38] Chr17:26864987 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1493C>G (p.Pro498Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001216823]	Chr17:28535064 [GRCh38] Chr17:26862082 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*13T>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125267]\|not provided [RCV004704427]	Chr17:28537449 [GRCh38] Chr17:26864467 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1036T>C (p.Trp346Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001217898]	Chr17:28534439 [GRCh38] Chr17:26861457 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.713G>A (p.Gly238Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000933885]	Chr17:28529107 [GRCh38] Chr17:26856125 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.225C>G (p.Pro75=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001445766]	Chr17:28524604 [GRCh38] Chr17:26851622 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.-14-43T>C	single nucleotide variant	not provided [RCV001570480]	Chr17:28523913 [GRCh38] Chr17:26850931 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-197T>C	single nucleotide variant	not provided [RCV001652227]	Chr17:28534134 [GRCh38] Chr17:26861152 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.-14-45A>C	single nucleotide variant	not provided [RCV001539920]\|not specified [RCV003487444]	Chr17:28523911 [GRCh38] Chr17:26850929 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.831-29G>T	single nucleotide variant	not provided [RCV001593639]	Chr17:28530720 [GRCh38] Chr17:26857738 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.831-30C>T	single nucleotide variant	not provided [RCV001637901]\|not specified [RCV003487572]	Chr17:28530719 [GRCh38] Chr17:26857737 [GRCh37] Chr17:17q11.2	benign
NC_000017.11:g.(?_28534311)_(28537456_?)del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001032354]	Chr17:26861329..26864474 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1327C>T (p.Leu443Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001035309]	Chr17:28534898 [GRCh38] Chr17:26861916 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1752G>A (p.Gly584=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125264]	Chr17:28537241 [GRCh38] Chr17:26864259 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1795_1796delinsCA (p.Ala599His)	indel	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001047869]	Chr17:28537284..28537285 [GRCh38] Chr17:26864302..26864303 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1921A>G (p.Ser641Gly)	single nucleotide variant	Inborn genetic diseases [RCV003293890]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125266]	Chr17:28537410 [GRCh38] Chr17:26864428 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.361G>A (p.Ala121Thr)	single nucleotide variant	See cases [RCV002252305]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001056770]	Chr17:28524740 [GRCh38] Chr17:26851758 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078466]\|T-lymphocyte deficiency [RCV001027393]	Chr17:28534334..28534335 [GRCh38] Chr17:26861352..26861353 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078467]\|T-lymphocyte deficiency [RCV001027394]	Chr17:28534492..28534506 [GRCh38] Chr17:26861510..26861524 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.*66C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126241]	Chr17:28537502 [GRCh38] Chr17:26864520 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1727C>T (p.Pro576Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122481]	Chr17:28537216 [GRCh38] Chr17:26864234 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1075G>A (p.Glu359Lys)	single nucleotide variant	FOXN1-related disorder [RCV004726914]\|not provided [RCV001171931]	Chr17:28534478 [GRCh38] Chr17:26861496 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.64G>A (p.Glu22Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122372]	Chr17:28524033 [GRCh38] Chr17:26851051 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.124-14C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122375]	Chr17:28524489 [GRCh38] Chr17:26851507 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122376]	Chr17:28524526 [GRCh38] Chr17:26851544 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1205del (p.Pro402fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001228694]	Chr17:28534772 [GRCh38] Chr17:26861790 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.906G>A (p.Thr302=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001044953]	Chr17:28530824 [GRCh38] Chr17:26857842 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.517C>T (p.Pro173Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046522]\|not specified [RCV004587022]	Chr17:28524896 [GRCh38] Chr17:26851914 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.189del (p.Pro65fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001059519]	Chr17:28524568 [GRCh38] Chr17:26851586 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.56T>C (p.Leu19Pro)	single nucleotide variant	Inborn genetic diseases [RCV002553895]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001060851]	Chr17:28524025 [GRCh38] Chr17:26851043 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1366_1369dup (p.His457fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001068832]	Chr17:28534935..28534936 [GRCh38] Chr17:26861953..26861954 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.700-132G>A	single nucleotide variant	not provided [RCV001690561]	Chr17:28528962 [GRCh38] Chr17:26855980 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.700-114G>A	single nucleotide variant	not provided [RCV001537198]	Chr17:28528980 [GRCh38] Chr17:26855998 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.490del (p.Asp164fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001041286]	Chr17:28524868 [GRCh38] Chr17:26851886 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.527C>T (p.Ser176Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001048989]	Chr17:28524906 [GRCh38] Chr17:26851924 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp)	single nucleotide variant	T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT [RCV001027391]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001027390]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV004761884]	Chr17:28534361 [GRCh38] Chr17:26861379 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.562del (p.Ser188fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001027392]	Chr17:28524941 [GRCh38] Chr17:26851959 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.67C>A (p.Arg23Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001062478]	Chr17:28524036 [GRCh38] Chr17:26851054 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1298T>G (p.Ile433Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001236769]	Chr17:28534869 [GRCh38] Chr17:26861887 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.689C>T (p.Pro230Leu)	single nucleotide variant	Inborn genetic diseases [RCV002554487]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001066298]	Chr17:28527351 [GRCh38] Chr17:26854369 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.554C>T (p.Pro185Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001069921]	Chr17:28524933 [GRCh38] Chr17:26851951 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	copy number gain	not provided [RCV001006886]	Chr17:25274363..28450707 [GRCh37] Chr17:17q11.1-11.2	pathogenic
NM_001369369.1(FOXN1):c.212C>T (p.Ala71Val)	single nucleotide variant	Inborn genetic diseases [RCV004978175]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001236124]	Chr17:28524591 [GRCh38] Chr17:26851609 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1351T>C (p.Tyr451His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001206062]	Chr17:28534922 [GRCh38] Chr17:26861940 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122371]	Chr17:28524011 [GRCh38] Chr17:26851029 [GRCh37] Chr17:17q11.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001369369.1(FOXN1):c.1651G>T (p.Asp551Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122480]	Chr17:28537140 [GRCh38] Chr17:26864158 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1376C>A (p.Ser459Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001038501]	Chr17:28534947 [GRCh38] Chr17:26861965 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.505_516del (p.Glu169_Leu172del)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046524]	Chr17:28524884..28524895 [GRCh38] Chr17:26851902..26851913 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.*20G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126239]	Chr17:28537456 [GRCh38] Chr17:26864474 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.50C>G (p.Thr17Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001058559]	Chr17:28524019 [GRCh38] Chr17:26851037 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1850_1854del (p.Tyr617fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001063946]	Chr17:28537335..28537339 [GRCh38] Chr17:26864353..26864357 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1418del (p.Pro473fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004773238]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027397]	Chr17:28534987 [GRCh38] Chr17:26862005 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.141C>A (p.Ser47Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001070325]	Chr17:28524520 [GRCh38] Chr17:26851538 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.-14-28A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122370]	Chr17:28523928 [GRCh38] Chr17:26850946 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.373C>A (p.Pro125Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125157]	Chr17:28524752 [GRCh38] Chr17:26851770 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.961C>T (p.His321Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001232246]	Chr17:28534364 [GRCh38] Chr17:26861382 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1115G>A (p.Arg372His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001304053]	Chr17:28534518 [GRCh38] Chr17:26861536 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.466G>A (p.Glu156Lys)	single nucleotide variant	Inborn genetic diseases [RCV004034965]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001319354]	Chr17:28524845 [GRCh38] Chr17:26851863 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1243C>T (p.Pro415Ser)	single nucleotide variant	Inborn genetic diseases [RCV002546078]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001320604]	Chr17:28534814 [GRCh38] Chr17:26861832 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_26861329)_(26864474_?)del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001319588]	Chr17:26861329..26864474 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1804A>G (p.Ser602Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001301355]	Chr17:28537293 [GRCh38] Chr17:26864311 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1466A>G (p.Gln489Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001303436]	Chr17:28535037 [GRCh38] Chr17:26862055 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1309A>G (p.Asn437Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001313457]	Chr17:28534880 [GRCh38] Chr17:26861898 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1369C>T (p.His457Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001326331]	Chr17:28534940 [GRCh38] Chr17:26861958 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.700-7T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001414275]	Chr17:28529087 [GRCh38] Chr17:26856105 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1877C>T (p.Thr626Met)	single nucleotide variant	Inborn genetic diseases [RCV004619667]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001363123]	Chr17:28537366 [GRCh38] Chr17:26864384 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1428C>T (p.Asp476=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001391801]	Chr17:28534999 [GRCh38] Chr17:26862017 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1320G>A (p.Gln440=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001422665]	Chr17:28534891 [GRCh38] Chr17:26861909 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1855G>C (p.Ala619Pro)	single nucleotide variant	FOXN1-related disorder [RCV003973206]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001327482]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002499647]\|not provided [RCV005256768]	Chr17:28537344 [GRCh38] Chr17:26864362 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1917C>T (p.Ser639=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001421768]	Chr17:28537406 [GRCh38] Chr17:26864424 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.716G>A (p.Gly239Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001304031]	Chr17:28529110 [GRCh38] Chr17:26856128 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1634T>C (p.Leu545Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001294797]	Chr17:28537123 [GRCh38] Chr17:26864141 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.723C>G (p.Tyr241Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001383306]	Chr17:28529117 [GRCh38] Chr17:26856135 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.8C>T (p.Ser3Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001315447]	Chr17:28523977 [GRCh38] Chr17:26850995 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.296A>G (p.Tyr99Cys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001296865]	Chr17:28524675 [GRCh38] Chr17:26851693 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.729_737del (p.Ile243_Leu246delinsMet)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001364743]	Chr17:28529122..28529130 [GRCh38] Chr17:26856140..26856148 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.685C>T (p.Pro229Ser)	single nucleotide variant	Inborn genetic diseases [RCV002546948]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001342080]	Chr17:28527347 [GRCh38] Chr17:26854365 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.943T>C (p.Trp315Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001301557]	Chr17:28534346 [GRCh38] Chr17:26861364 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1286C>T (p.Ala429Val)	single nucleotide variant	Inborn genetic diseases [RCV002543798]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001320288]	Chr17:28534857 [GRCh38] Chr17:26861875 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1313C>A (p.Pro438His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001346015]\|not provided [RCV004727173]	Chr17:28534884 [GRCh38] Chr17:26861902 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.253G>A (p.Gly85Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001322080]	Chr17:28524632 [GRCh38] Chr17:26851650 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.873C>G (p.Ser291Arg)	single nucleotide variant	Inborn genetic diseases [RCV002543849]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001323223]	Chr17:28530791 [GRCh38] Chr17:26857809 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.817A>G (p.Ile273Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001305843]	Chr17:28529211 [GRCh38] Chr17:26856229 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1522G>A (p.Glu508Lys)	single nucleotide variant	Inborn genetic diseases [RCV002547442]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001345466]	Chr17:28535093 [GRCh38] Chr17:26862111 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1887G>A (p.Thr629=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001370841]	Chr17:28537376 [GRCh38] Chr17:26864394 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.1671C>A (p.Asp557Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001299666]	Chr17:28537160 [GRCh38] Chr17:26864178 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.988G>A (p.Glu330Lys)	single nucleotide variant	Inborn genetic diseases [RCV004619653]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001344507]\|not provided [RCV003405578]	Chr17:28534391 [GRCh38] Chr17:26861409 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1866G>T (p.Glu622Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001295764]	Chr17:28537355 [GRCh38] Chr17:26864373 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1438G>C (p.Glu480Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001352270]	Chr17:28535009 [GRCh38] Chr17:26862027 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1471T>C (p.Ser491Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001305013]	Chr17:28535042 [GRCh38] Chr17:26862060 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.492C>T (p.Asp164=)	single nucleotide variant	FOXN1-related disorder [RCV003963304]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413064]	Chr17:28524871 [GRCh38] Chr17:26851889 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.936C>T (p.Pro312=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001435508]	Chr17:28534339 [GRCh38] Chr17:26861357 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+10G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001473346]	Chr17:28534548 [GRCh38] Chr17:26861566 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1551C>T (p.Asp517=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001465235]	Chr17:28535122 [GRCh38] Chr17:26862140 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1740C>T (p.Cys580=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001461298]	Chr17:28537229 [GRCh38] Chr17:26864247 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.831-5T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001484913]	Chr17:28530744 [GRCh38] Chr17:26857762 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.927+8C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001486782]	Chr17:28530853 [GRCh38] Chr17:26857871 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1664C>T (p.Ala555Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001522504]	Chr17:28537153 [GRCh38] Chr17:26864171 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.1135+20G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001460412]	Chr17:28534558 [GRCh38] Chr17:26861576 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-9T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001397994]	Chr17:28527242 [GRCh38] Chr17:26854260 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.183C>T (p.Pro61=)	single nucleotide variant	FOXN1-related disorder [RCV003908643]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001438097]\|not provided [RCV004706152]	Chr17:28524562 [GRCh38] Chr17:26851580 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1656T>C (p.Asp552=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001406943]	Chr17:28537145 [GRCh38] Chr17:26864163 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1327del (p.Met444fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001378326]	Chr17:28534898 [GRCh38] Chr17:26861916 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.823del (p.Ser275fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001389564]	Chr17:28529216 [GRCh38] Chr17:26856234 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1316del (p.Leu439fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001387604]	Chr17:28534887 [GRCh38] Chr17:26861905 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.93G>A (p.Pro31=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001428043]	Chr17:28524062 [GRCh38] Chr17:26851080 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.114C>T (p.Ala38=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001407766]	Chr17:28524083 [GRCh38] Chr17:26851101 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.705G>A (p.Ser235=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001437689]	Chr17:28529099 [GRCh38] Chr17:26856117 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1938C>T (p.Ala646=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001405847]	Chr17:28537427 [GRCh38] Chr17:26864445 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.702C>T (p.Tyr234=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001439240]	Chr17:28529096 [GRCh38] Chr17:26856114 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1434C>T (p.His478=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001502095]	Chr17:28535005 [GRCh38] Chr17:26862023 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1059C>T (p.Ile353=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001472630]	Chr17:28534462 [GRCh38] Chr17:26861480 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.700-141T>G	single nucleotide variant	not provided [RCV001709321]	Chr17:28528953 [GRCh38] Chr17:26855971 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.-14-163TC[12]	microsatellite	not provided [RCV001675546]	Chr17:28523793..28523808 [GRCh38] Chr17:26850811..26850826 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.1628-9C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001469029]	Chr17:28537108 [GRCh38] Chr17:26864126 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1698G>A (p.Pro566=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001490987]	Chr17:28537187 [GRCh38] Chr17:26864205 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1200G>A (p.Pro400=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001480130]	Chr17:28534771 [GRCh38] Chr17:26861789 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.150A>T (p.Ser50=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001496898]	Chr17:28524529 [GRCh38] Chr17:26851547 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+62A>G	single nucleotide variant	not provided [RCV001640947]\|not specified [RCV003487575]	Chr17:28534600 [GRCh38] Chr17:26861618 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.675C>T (p.Cys225=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001477289]	Chr17:28527337 [GRCh38] Chr17:26854355 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-280C>G	single nucleotide variant	not provided [RCV001685302]	Chr17:28534051 [GRCh38] Chr17:26861069 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.375G>A (p.Pro125=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001481470]	Chr17:28524754 [GRCh38] Chr17:26851772 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.561C>G (p.Pro187=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001415592]	Chr17:28524940 [GRCh38] Chr17:26851958 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.786C>T (p.Thr262=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001417909]\|not provided [RCV004704539]	Chr17:28529180 [GRCh38] Chr17:26856198 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1932C>T (p.Pro644=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001480479]\|not provided [RCV001701170]	Chr17:28537421 [GRCh38] Chr17:26864439 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.162C>T (p.Asp54=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001511934]	Chr17:28524541 [GRCh38] Chr17:26851559 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.411G>A (p.Glu137=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001479353]\|not provided [RCV003426141]	Chr17:28524790 [GRCh38] Chr17:26851808 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+1G>T	single nucleotide variant	not provided [RCV001727026]	Chr17:28529225 [GRCh38] Chr17:26856243 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.699+22C>A	single nucleotide variant	not provided [RCV001779790]	Chr17:28527383 [GRCh38] Chr17:26854401 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.184T>A (p.Ser62Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001929549]	Chr17:28524563 [GRCh38] Chr17:26851581 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.332G>A (p.Ser111Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001871249]	Chr17:28524711 [GRCh38] Chr17:26851729 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.885C>T (p.Ser295=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001969915]	Chr17:28530803 [GRCh38] Chr17:26857821 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.1900C>T (p.Pro634Ser)	single nucleotide variant	Inborn genetic diseases [RCV004975863]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928273]	Chr17:28537389 [GRCh38] Chr17:26864407 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1549G>A (p.Asp517Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001895772]\|not provided [RCV004693867]	Chr17:28535120 [GRCh38] Chr17:26862138 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.667A>C (p.Met223Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001929253]	Chr17:28527329 [GRCh38] Chr17:26854347 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1907T>C (p.Val636Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002006908]	Chr17:28537396 [GRCh38] Chr17:26864414 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.707C>A (p.Pro236Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001971146]	Chr17:28529101 [GRCh38] Chr17:26856119 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.139A>G (p.Ser47Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002008532]	Chr17:28524518 [GRCh38] Chr17:26851536 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.427G>A (p.Ala143Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002025539]	Chr17:28524806 [GRCh38] Chr17:26851824 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	copy number gain	not specified [RCV002052591]	Chr17:21690653..28281232 [GRCh37] Chr17:17p11.2-q11.2	pathogenic
NM_001369369.1(FOXN1):c.1897G>A (p.Gly633Ser)	single nucleotide variant	Inborn genetic diseases [RCV004975768]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001892825]	Chr17:28537386 [GRCh38] Chr17:26864404 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.656C>G (p.Pro219Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001908003]	Chr17:28527318 [GRCh38] Chr17:26854336 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.740G>T (p.Gly247Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002040816]	Chr17:28529134 [GRCh38] Chr17:26856152 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.723C>A (p.Tyr241Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001824253]	Chr17:28529117 [GRCh38] Chr17:26856135 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.44G>A (p.Gly15Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002004395]	Chr17:28524013 [GRCh38] Chr17:26851031 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.415G>A (p.Glu139Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928633]	Chr17:28524794 [GRCh38] Chr17:26851812 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.100C>G (p.Pro34Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001966977]	Chr17:28524069 [GRCh38] Chr17:26851087 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1780G>C (p.Ala594Pro)	single nucleotide variant	Inborn genetic diseases [RCV002562915]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001982825]	Chr17:28537269 [GRCh38] Chr17:26864287 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.928-2A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002041128]	Chr17:28534329 [GRCh38] Chr17:26861347 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1580C>T (p.Thr527Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002022235]	Chr17:28535151 [GRCh38] Chr17:26862169 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.374C>T (p.Pro125Leu)	single nucleotide variant	Inborn genetic diseases [RCV003339819]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001945074]	Chr17:28524753 [GRCh38] Chr17:26851771 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1627+6C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002002864]	Chr17:28535204 [GRCh38] Chr17:26862222 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1355G>A (p.Gly452Glu)	single nucleotide variant	Inborn genetic diseases [RCV002548890]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002021488]	Chr17:28534926 [GRCh38] Chr17:26861944 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1262C>T (p.Pro421Leu)	single nucleotide variant	Inborn genetic diseases [RCV004976157]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002020604]	Chr17:28534833 [GRCh38] Chr17:26861851 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1400C>T (p.Pro467Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002034375]	Chr17:28534971 [GRCh38] Chr17:26861989 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.649C>A (p.Gln217Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002000451]	Chr17:28527311 [GRCh38] Chr17:26854329 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.690dup (p.Phe231fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001941989]	Chr17:28527346..28527347 [GRCh38] Chr17:26854364..26854365 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.937G>A (p.Asp313Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002045898]	Chr17:28534340 [GRCh38] Chr17:26861358 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.182C>A (p.Pro61His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001887927]	Chr17:28524561 [GRCh38] Chr17:26851579 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1817G>A (p.Gly606Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002018922]	Chr17:28537306 [GRCh38] Chr17:26864324 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1459_1460del (p.Thr487fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001972744]	Chr17:28535029..28535030 [GRCh38] Chr17:26862047..26862048 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1933G>A (p.Val645Met)	single nucleotide variant	Inborn genetic diseases [RCV004616799]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001867274]	Chr17:28537422 [GRCh38] Chr17:26864440 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NC_000017.10:g.(?_26861345)_(26864490_?)del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001972824]	Chr17:26861345..26864490 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.401T>A (p.Val134Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001993939]	Chr17:28524780 [GRCh38] Chr17:26851798 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1741T>A (p.Phe581Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001973029]	Chr17:28537230 [GRCh38] Chr17:26864248 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1864G>A (p.Glu622Lys)	single nucleotide variant	Inborn genetic diseases [RCV003348678]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002012054]	Chr17:28537353 [GRCh38] Chr17:26864371 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1730C>G (p.Pro577Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001918432]	Chr17:28537219 [GRCh38] Chr17:26864237 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.455del (p.Pro152fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001865072]	Chr17:28524831 [GRCh38] Chr17:26851849 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1403C>T (p.Pro468Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001933333]	Chr17:28534974 [GRCh38] Chr17:26861992 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1565A>G (p.Asp522Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002014449]	Chr17:28535136 [GRCh38] Chr17:26862154 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1424C>T (p.Pro475Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938515]	Chr17:28534995 [GRCh38] Chr17:26862013 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.446T>C (p.Phe149Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001902153]	Chr17:28524825 [GRCh38] Chr17:26851843 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1039G>A (p.Ala347Thr)	single nucleotide variant	Inborn genetic diseases [RCV002557598]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001935467]	Chr17:28534442 [GRCh38] Chr17:26861460 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1628G>A (p.Gly543Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002027456]	Chr17:28537117 [GRCh38] Chr17:26864135 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.171A>G (p.Pro57=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001958732]	Chr17:28524550 [GRCh38] Chr17:26851568 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.452C>A (p.Thr151Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002047496]	Chr17:28524831 [GRCh38] Chr17:26851849 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.92C>A (p.Pro31Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001999064]	Chr17:28524061 [GRCh38] Chr17:26851079 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.64G>T (p.Glu22Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938176]	Chr17:28524033 [GRCh38] Chr17:26851051 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.971C>T (p.Ser324Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001882994]	Chr17:28534374 [GRCh38] Chr17:26861392 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.689C>G (p.Pro230Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001901348]	Chr17:28527351 [GRCh38] Chr17:26854369 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.814C>A (p.Pro272Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002019222]	Chr17:28529208 [GRCh38] Chr17:26856226 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1594A>C (p.Ile532Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001996882]	Chr17:28535165 [GRCh38] Chr17:26862183 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1711A>G (p.Met571Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938846]	Chr17:28537200 [GRCh38] Chr17:26864218 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1720C>G (p.Pro574Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001998887]	Chr17:28537209 [GRCh38] Chr17:26864227 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.689C>A (p.Pro230His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002015019]	Chr17:28527351 [GRCh38] Chr17:26854369 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.475G>A (p.Glu159Lys)	single nucleotide variant	Inborn genetic diseases [RCV002558445]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001919413]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002484563]	Chr17:28524854 [GRCh38] Chr17:26851872 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1304G>A (p.Gly435Asp)	single nucleotide variant	Inborn genetic diseases [RCV004980790]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001903953]	Chr17:28534875 [GRCh38] Chr17:26861893 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1199C>T (p.Pro400Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002031657]	Chr17:28534770 [GRCh38] Chr17:26861788 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1010del (p.Gly337fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001951067]	Chr17:28534412 [GRCh38] Chr17:26861430 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.193C>T (p.Pro65Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002031887]	Chr17:28524572 [GRCh38] Chr17:26851590 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.400G>A (p.Val134Ile)	single nucleotide variant	Inborn genetic diseases [RCV004975815]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001922839]	Chr17:28524779 [GRCh38] Chr17:26851797 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.997G>A (p.Glu333Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002015800]	Chr17:28534400 [GRCh38] Chr17:26861418 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.831-14T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002166170]	Chr17:28530735 [GRCh38] Chr17:26857753 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+18A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002110204]	Chr17:28534556 [GRCh38] Chr17:26861574 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1632C>T (p.Asn544=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002148982]	Chr17:28537121 [GRCh38] Chr17:26864139 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1174C>T (p.Leu392=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002124529]	Chr17:28534745 [GRCh38] Chr17:26861763 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.327A>T (p.Ala109=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002091570]	Chr17:28524706 [GRCh38] Chr17:26851724 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-17A>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002147785]	Chr17:28524486 [GRCh38] Chr17:26851504 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.1797C>A (p.Ala599=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096922]	Chr17:28537286 [GRCh38] Chr17:26864304 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.474C>T (p.Phe158=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002130731]	Chr17:28524853 [GRCh38] Chr17:26851871 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.939T>C (p.Asp313=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002095269]	Chr17:28534342 [GRCh38] Chr17:26861360 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1875C>A (p.Pro625=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002173513]\|not provided [RCV004704690]	Chr17:28537364 [GRCh38] Chr17:26864382 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.55C>T (p.Leu19=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096573]	Chr17:28524024 [GRCh38] Chr17:26851042 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1275A>G (p.Ser425=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002196547]	Chr17:28534846 [GRCh38] Chr17:26861864 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1353T>C (p.Tyr451=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002133346]	Chr17:28534924 [GRCh38] Chr17:26861942 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1605A>T (p.Ser535=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002194228]	Chr17:28535176 [GRCh38] Chr17:26862194 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1821A>C (p.Ala607=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002112922]	Chr17:28537310 [GRCh38] Chr17:26864328 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.735C>T (p.Tyr245=)	single nucleotide variant	FOXN1-related disorder [RCV003968894]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096274]	Chr17:28529129 [GRCh38] Chr17:26856147 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_001369369.1(FOXN1):c.1191G>C (p.Leu397=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002108593]	Chr17:28534762 [GRCh38] Chr17:26861780 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1281C>T (p.His427=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002101541]	Chr17:28534852 [GRCh38] Chr17:26861870 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.915T>C (p.Phe305=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002157775]	Chr17:28530833 [GRCh38] Chr17:26857851 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1578C>G (p.Gly526=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002202932]	Chr17:28535149 [GRCh38] Chr17:26862167 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1627+16G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002142634]	Chr17:28535214 [GRCh38] Chr17:26862232 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-4C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002140814]	Chr17:28524499 [GRCh38] Chr17:26851517 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.570G>A (p.Glu190=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143944]	Chr17:28524949 [GRCh38] Chr17:26851967 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-10C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002155615]	Chr17:28527241 [GRCh38] Chr17:26854259 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1473G>A (p.Ser491=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143992]	Chr17:28535044 [GRCh38] Chr17:26862062 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.657C>T (p.Pro219=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002218323]	Chr17:28527319 [GRCh38] Chr17:26854337 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1812C>T (p.Gly604=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002180371]	Chr17:28537301 [GRCh38] Chr17:26864319 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.96C>A (p.Gly32=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143039]	Chr17:28524065 [GRCh38] Chr17:26851083 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.633T>G (p.Ala211=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002158878]	Chr17:28527295 [GRCh38] Chr17:26854313 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1425G>T (p.Pro475=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002201342]	Chr17:28534996 [GRCh38] Chr17:26862014 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.39G>A (p.Leu13=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002136486]	Chr17:28524008 [GRCh38] Chr17:26851026 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.279C>A (p.Leu93=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002123904]	Chr17:28524658 [GRCh38] Chr17:26851676 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.553C>T (p.Pro185Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003110378]	Chr17:28524932 [GRCh38] Chr17:26851950 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.927+6C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003110733]	Chr17:28530851 [GRCh38] Chr17:26857869 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.17C>T (p.Pro6Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003111932]	Chr17:28523986 [GRCh38] Chr17:26851004 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_26684694)_(27581367_?)dup	duplication	not provided [RCV003116316]	Chr17:26684694..27581367 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.484C>T (p.Pro162Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003114909]	Chr17:28524863 [GRCh38] Chr17:26851881 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_26861752)_(26869835_?)del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003113289]	Chr17:26861752..26869835 [GRCh37] Chr17:17q11.2	pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup	duplication	not provided [RCV003123018]	Chr17:26684694..29701173 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1106T>C (p.Ile369Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005095941]\|not specified [RCV002266373]	Chr17:28534509 [GRCh38] Chr17:26861527 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.-14-163TC[22]	microsatellite	not provided [RCV002285592]	Chr17:28523792..28523793 [GRCh38] Chr17:26850810..26850811 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+184T>G	single nucleotide variant	not provided [RCV002285987]	Chr17:28527545 [GRCh38] Chr17:26854563 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.664C>T (p.His222Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002302939]	Chr17:28527326 [GRCh38] Chr17:26854344 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.890T>G (p.Ile297Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002304332]	Chr17:28530808 [GRCh38] Chr17:26857826 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.629G>C (p.Gly210Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002305216]	Chr17:28527291 [GRCh38] Chr17:26854309 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.932C>T (p.Ala311Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002298190]	Chr17:28534335 [GRCh38] Chr17:26861353 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.73G>A (p.Gly25Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002294916]	Chr17:28524042 [GRCh38] Chr17:26851060 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1404G>A (p.Pro468=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003073649]	Chr17:28534975 [GRCh38] Chr17:26861993 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.123+8C>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002991487]	Chr17:28524100 [GRCh38] Chr17:26851118 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1263A>C (p.Pro421=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002816060]	Chr17:28534834 [GRCh38] Chr17:26861852 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.80T>C (p.Leu27Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002838569]	Chr17:28524049 [GRCh38] Chr17:26851067 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.505G>A (p.Glu169Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002994446]\|not specified [RCV003155500]	Chr17:28524884 [GRCh38] Chr17:26851902 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1385T>C (p.Leu462Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002795091]	Chr17:28534956 [GRCh38] Chr17:26861974 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.360C>T (p.His120=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002686390]	Chr17:28524739 [GRCh38] Chr17:26851757 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.302GCTTTG[3] (p.Phe104_Glu105insGlyPhe)	microsatellite	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002904179]	Chr17:28524678..28524679 [GRCh38] Chr17:26851696..26851697 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.830+10C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002740287]	Chr17:28529234 [GRCh38] Chr17:26856252 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+10G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002592215]	Chr17:28527371 [GRCh38] Chr17:26854389 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-10C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780866]	Chr17:28527241 [GRCh38] Chr17:26854259 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1387G>A (p.Ala463Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003081202]	Chr17:28534958 [GRCh38] Chr17:26861976 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.213G>A (p.Ala71=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002640484]	Chr17:28524592 [GRCh38] Chr17:26851610 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.31G>A (p.Val11Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002640209]	Chr17:28524000 [GRCh38] Chr17:26851018 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1432C>T (p.His478Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003002404]	Chr17:28535003 [GRCh38] Chr17:26862021 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1021del (p.Arg341fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003017934]	Chr17:28534422 [GRCh38] Chr17:26861440 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1775G>C (p.Ser592Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003053853]	Chr17:28537264 [GRCh38] Chr17:26864282 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1140G>C (p.Glu380Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003000073]	Chr17:28534711 [GRCh38] Chr17:26861729 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.126G>A (p.Lys42=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002866639]	Chr17:28524505 [GRCh38] Chr17:26851523 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.465G>A (p.Leu155=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002847271]	Chr17:28524844 [GRCh38] Chr17:26851862 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.513C>T (p.Phe171=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002886126]	Chr17:28524892 [GRCh38] Chr17:26851910 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1421A>G (p.Gln474Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780590]	Chr17:28534992 [GRCh38] Chr17:26862010 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1022G>A (p.Arg341His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003078284]	Chr17:28534425 [GRCh38] Chr17:26861443 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.91C>T (p.Pro31Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002637029]	Chr17:28524060 [GRCh38] Chr17:26851078 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1797C>T (p.Ala599=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002795311]	Chr17:28537286 [GRCh38] Chr17:26864304 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-16C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003037857]	Chr17:28527235 [GRCh38] Chr17:26854253 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.494T>C (p.Val165Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780771]	Chr17:28524873 [GRCh38] Chr17:26851891 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.340C>T (p.Arg114Ter)	single nucleotide variant	Severe combined immunodeficiency disease [RCV005239597]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003000196]	Chr17:28524719 [GRCh38] Chr17:26851737 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1879C>A (p.Pro627Thr)	single nucleotide variant	Inborn genetic diseases [RCV002912180]	Chr17:28537368 [GRCh38] Chr17:26864386 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1814C>T (p.Ser605Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002736629]	Chr17:28537303 [GRCh38] Chr17:26864321 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.493G>A (p.Val165Met)	single nucleotide variant	Inborn genetic diseases [RCV002913624]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002913625]	Chr17:28524872 [GRCh38] Chr17:26851890 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.40C>T (p.Pro14Ser)	single nucleotide variant	Inborn genetic diseases [RCV002869140]	Chr17:28524009 [GRCh38] Chr17:26851027 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.627T>C (p.Ser209=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002975768]	Chr17:28527289 [GRCh38] Chr17:26854307 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.57G>T (p.Leu19=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003054214]	Chr17:28524026 [GRCh38] Chr17:26851044 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1248A>G (p.Pro416=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002569526]	Chr17:28534819 [GRCh38] Chr17:26861837 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1253G>A (p.Gly418Asp)	single nucleotide variant	Inborn genetic diseases [RCV002739428]	Chr17:28534824 [GRCh38] Chr17:26861842 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.700-16C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002705426]	Chr17:28529078 [GRCh38] Chr17:26856096 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-5C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003084117]	Chr17:28524498 [GRCh38] Chr17:26851516 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1295C>A (p.Pro432His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002918430]	Chr17:28534866 [GRCh38] Chr17:26861884 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.589-4G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002625948]	Chr17:28527247 [GRCh38] Chr17:26854265 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_001369369.1(FOXN1):c.772C>A (p.Pro258Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002958174]	Chr17:28529166 [GRCh38] Chr17:26856184 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.498G>A (p.Ala166=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002745564]	Chr17:28524877 [GRCh38] Chr17:26851895 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.582A>C (p.Gln194His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003008115]	Chr17:28524961 [GRCh38] Chr17:26851979 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1138G>A (p.Glu380Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002801429]	Chr17:28534709 [GRCh38] Chr17:26861727 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.789T>A (p.Asp263Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002765380]	Chr17:28529183 [GRCh38] Chr17:26856201 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1314C>T (p.Pro438=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002642318]	Chr17:28534885 [GRCh38] Chr17:26861903 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.203C>G (p.Pro68Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002741697]	Chr17:28524582 [GRCh38] Chr17:26851600 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.67C>T (p.Arg23Cys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002626512]	Chr17:28524036 [GRCh38] Chr17:26851054 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.166C>A (p.Pro56Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002623440]	Chr17:28524545 [GRCh38] Chr17:26851563 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002745540]\|not specified [RCV004700816]	Chr17:28534452 [GRCh38] Chr17:26861470 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1136-13T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002871859]	Chr17:28534694 [GRCh38] Chr17:26861712 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.638T>C (p.Met213Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002790919]	Chr17:28527300 [GRCh38] Chr17:26854318 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.873C>T (p.Ser291=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003083645]	Chr17:28530791 [GRCh38] Chr17:26857809 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1880C>T (p.Pro627Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002800998]	Chr17:28537369 [GRCh38] Chr17:26864387 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1234C>G (p.Pro412Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003040238]	Chr17:28534805 [GRCh38] Chr17:26861823 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.290A>G (p.Asp97Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003049221]	Chr17:28524669 [GRCh38] Chr17:26851687 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.186A>G (p.Ser62=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003065836]	Chr17:28524565 [GRCh38] Chr17:26851583 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.259G>A (p.Gly87Ser)	single nucleotide variant	Inborn genetic diseases [RCV002651971]	Chr17:28524638 [GRCh38] Chr17:26851656 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.973C>T (p.Leu325Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002834898]	Chr17:28534376 [GRCh38] Chr17:26861394 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1245C>T (p.Pro415=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002600467]	Chr17:28534816 [GRCh38] Chr17:26861834 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.588+11G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002579738]	Chr17:28524978 [GRCh38] Chr17:26851996 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+16C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002716806]	Chr17:28534554 [GRCh38] Chr17:26861572 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-16_124-15delinsTA	indel	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003086789]	Chr17:28524487..28524488 [GRCh38] Chr17:26851505..26851506 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1144G>A (p.Asp382Asn)	single nucleotide variant	Inborn genetic diseases [RCV002921549]	Chr17:28534715 [GRCh38] Chr17:26861733 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003029583]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV003138449]	Chr17:28534938 [GRCh38] Chr17:26861956 [GRCh37] Chr17:17q11.2	pathogenic\|likely pathogenic
NM_001369369.1(FOXN1):c.1321G>A (p.Asp441Asn)	single nucleotide variant	Inborn genetic diseases [RCV002807449]	Chr17:28534892 [GRCh38] Chr17:26861910 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1835A>G (p.His612Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003090299]	Chr17:28537324 [GRCh38] Chr17:26864342 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1431del (p.His478fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002834975]	Chr17:28535000 [GRCh38] Chr17:26862018 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.554C>G (p.Pro185Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002807255]	Chr17:28524933 [GRCh38] Chr17:26851951 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1046A>G (p.Asn349Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002807014]	Chr17:28534449 [GRCh38] Chr17:26861467 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1705T>A (p.Ser569Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002628295]	Chr17:28537194 [GRCh38] Chr17:26864212 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.534G>A (p.Glu178=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002806369]	Chr17:28524913 [GRCh38] Chr17:26851931 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.225C>T (p.Pro75=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002633637]	Chr17:28524604 [GRCh38] Chr17:26851622 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.68G>A (p.Arg23His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003093174]	Chr17:28524037 [GRCh38] Chr17:26851055 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1316T>G (p.Leu439Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003052619]	Chr17:28534887 [GRCh38] Chr17:26861905 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.578C>T (p.Pro193Leu)	single nucleotide variant	FOXN1-related disorder [RCV004725499]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003068269]	Chr17:28524957 [GRCh38] Chr17:26851975 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.217C>T (p.Pro73Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003067193]	Chr17:28524596 [GRCh38] Chr17:26851614 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.462G>A (p.Pro154=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002584694]	Chr17:28524841 [GRCh38] Chr17:26851859 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.534G>T (p.Glu178Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002613054]	Chr17:28524913 [GRCh38] Chr17:26851931 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1945T>G (p.Ter649Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224683]	Chr17:28537434 [GRCh38] Chr17:26864452 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.668T>G (p.Met223Arg)	single nucleotide variant	not provided [RCV003222907]	Chr17:28527330 [GRCh38] Chr17:26854348 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.1545G>T (p.Met515Ile)	single nucleotide variant	Inborn genetic diseases [RCV003200614]	Chr17:28535116 [GRCh38] Chr17:26862134 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1318C>T (p.Gln440Ter)	single nucleotide variant	not provided [RCV003222908]	Chr17:28534889 [GRCh38] Chr17:26861907 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553]	Chr17:25263507..27829791 [GRCh37] Chr17:17q11.1-11.2	uncertain significance
NM_001369369.1(FOXN1):c.1226C>T (p.Pro409Leu)	single nucleotide variant	Inborn genetic diseases [RCV003369894]	Chr17:28534797 [GRCh38] Chr17:26861815 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1012A>G (p.Ser338Gly)	single nucleotide variant	Inborn genetic diseases [RCV003381871]	Chr17:28534415 [GRCh38] Chr17:26861433 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.414C>T (p.Ala138=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003872978]	Chr17:28524793 [GRCh38] Chr17:26851811 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1809T>C (p.Gly603=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003875155]	Chr17:28537298 [GRCh38] Chr17:26864316 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+12C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003873866]	Chr17:28534550 [GRCh38] Chr17:26861568 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1779G>A (p.Gly593=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003873921]	Chr17:28537268 [GRCh38] Chr17:26864286 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1366T>C (p.Leu456=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003874724]	Chr17:28534937 [GRCh38] Chr17:26861955 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1335G>C (p.Gly445=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003874569]	Chr17:28534906 [GRCh38] Chr17:26861924 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1872G>A (p.Glu624=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511268]	Chr17:28537361 [GRCh38] Chr17:26864379 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+10C>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511399]	Chr17:28524102 [GRCh38] Chr17:26851120 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.437G>A (p.Gly146Glu)	single nucleotide variant	FOXN1-related disorder [RCV003404255]	Chr17:28524816 [GRCh38] Chr17:26851834 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1700C>A (p.Thr567Lys)	single nucleotide variant	FOXN1-related disorder [RCV003397253]	Chr17:28537189 [GRCh38] Chr17:26864207 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1190T>G (p.Leu397Arg)	single nucleotide variant	FOXN1-related disorder [RCV003410718]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005062912]	Chr17:28534761 [GRCh38] Chr17:26861779 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1135+20G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510085]	Chr17:28534558 [GRCh38] Chr17:26861576 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.335C>G (p.Pro112Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876268]	Chr17:28524714 [GRCh38] Chr17:26851732 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1236C>T (p.Pro412=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510101]	Chr17:28534807 [GRCh38] Chr17:26861825 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.786C>A (p.Thr262=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003829497]	Chr17:28529180 [GRCh38] Chr17:26856198 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.127C>T (p.His43Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510312]	Chr17:28524506 [GRCh38] Chr17:26851524 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.723C>T (p.Tyr241=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003825633]	Chr17:28529117 [GRCh38] Chr17:26856135 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1279C>T (p.His427Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004981126]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003880613]\|not provided [RCV005001452]	Chr17:28534850 [GRCh38] Chr17:26861868 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1530C>T (p.Ser510=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509402]	Chr17:28535101 [GRCh38] Chr17:26862119 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.867T>A (p.Thr289=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509413]	Chr17:28530785 [GRCh38] Chr17:26857803 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1383C>T (p.Gly461=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509462]	Chr17:28534954 [GRCh38] Chr17:26861972 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1324_1336del (p.Leu442fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510889]	Chr17:28534894..28534906 [GRCh38] Chr17:26861912..26861924 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.928-12C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003878636]	Chr17:28534319 [GRCh38] Chr17:26861337 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1242A>T (p.Ala414=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510025]	Chr17:28534813 [GRCh38] Chr17:26861831 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1628-13C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510618]	Chr17:28537104 [GRCh38] Chr17:26864122 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.363G>T (p.Ala121=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510052]	Chr17:28524742 [GRCh38] Chr17:26851760 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+5G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511230]	Chr17:28534543 [GRCh38] Chr17:26861561 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1374C>T (p.Leu458=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510783]	Chr17:28534945 [GRCh38] Chr17:26861963 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.189G>A (p.Leu63=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510132]	Chr17:28524568 [GRCh38] Chr17:26851586 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-4G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510227]	Chr17:28534327 [GRCh38] Chr17:26861345 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1136-16C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876384]	Chr17:28534691 [GRCh38] Chr17:26861709 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.339G>C (p.Gly113=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510918]	Chr17:28524718 [GRCh38] Chr17:26851736 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1662G>A (p.Leu554=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510964]	Chr17:28537151 [GRCh38] Chr17:26864169 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.318G>A (p.Glu106=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003878766]	Chr17:28524697 [GRCh38] Chr17:26851715 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-1046A>G	single nucleotide variant	not specified [RCV003489138]	Chr17:28526205 [GRCh38] Chr17:26853223 [GRCh37] Chr17:17q11.2	benign
NM_001369369.1(FOXN1):c.888G>A (p.Glu296=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511107]	Chr17:28530806 [GRCh38] Chr17:26857824 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.684G>A (p.Gln228=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511108]	Chr17:28527346 [GRCh38] Chr17:26854364 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.792G>T (p.Gly264=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003882413]	Chr17:28529186 [GRCh38] Chr17:26856204 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+19C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511122]	Chr17:28534557 [GRCh38] Chr17:26861575 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.969A>G (p.Leu323=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003877121]	Chr17:28534372 [GRCh38] Chr17:26861390 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.263C>T (p.Pro88Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003882097]	Chr17:28524642 [GRCh38] Chr17:26851660 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.6del (p.Ser3fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510608]	Chr17:28523975 [GRCh38] Chr17:26850993 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.681C>T (p.Ser227=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876769]	Chr17:28527343 [GRCh38] Chr17:26854361 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+4C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509181]	Chr17:28529228 [GRCh38] Chr17:26856246 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1712T>C (p.Met571Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510787]	Chr17:28537201 [GRCh38] Chr17:26864219 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1340C>T (p.Thr447Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510688]	Chr17:28534911 [GRCh38] Chr17:26861929 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1548C>T (p.His516=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510898]	Chr17:28535119 [GRCh38] Chr17:26862137 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.516G>A (p.Leu172=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510676]	Chr17:28524895 [GRCh38] Chr17:26851913 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.470C>A (p.Ala157Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511196]	Chr17:28524849 [GRCh38] Chr17:26851867 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1628-5del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510044]	Chr17:28537112 [GRCh38] Chr17:26864130 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.927+9A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509258]	Chr17:28530854 [GRCh38] Chr17:26857872 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-20G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510400]	Chr17:28534311 [GRCh38] Chr17:26861329 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.300T>C (p.Pro100=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510493]	Chr17:28524679 [GRCh38] Chr17:26851697 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1050G>C (p.Pro350=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509383]	Chr17:28534453 [GRCh38] Chr17:26861471 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.495G>A (p.Val165=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509401]	Chr17:28524874 [GRCh38] Chr17:26851892 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.927+18C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510156]	Chr17:28530863 [GRCh38] Chr17:26857881 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1527T>A (p.Pro509=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003824429]	Chr17:28535098 [GRCh38] Chr17:26862116 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.636G>A (p.Gly212=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511192]	Chr17:28527298 [GRCh38] Chr17:26854316 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1493del (p.Pro498fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509270]	Chr17:28535061 [GRCh38] Chr17:26862079 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1521C>T (p.Ala507=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510280]	Chr17:28535092 [GRCh38] Chr17:26862110 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.98_114del (p.Leu33fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509455]	Chr17:28524064..28524080 [GRCh38] Chr17:26851082..26851098 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1065G>A (p.Lys355=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510323]	Chr17:28534468 [GRCh38] Chr17:26861486 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.894C>T (p.Tyr298=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509153]	Chr17:28530812 [GRCh38] Chr17:26857830 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.831-6del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510526]	Chr17:28530743 [GRCh38] Chr17:26857761 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1386G>A (p.Leu462=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511445]	Chr17:28534957 [GRCh38] Chr17:26861975 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1889C>A (p.Ala630Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510340]	Chr17:28537378 [GRCh38] Chr17:26864396 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1149C>T (p.Ser383=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509256]	Chr17:28534720 [GRCh38] Chr17:26861738 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.118C>T (p.Gln40Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510612]	Chr17:28524087 [GRCh38] Chr17:26851105 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1135+7C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511021]	Chr17:28534545 [GRCh38] Chr17:26861563 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.345C>G (p.Phe115Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510633]	Chr17:28524724 [GRCh38] Chr17:26851742 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1704A>G (p.Ser568=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509888]	Chr17:28537193 [GRCh38] Chr17:26864211 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1473G>T (p.Ser491=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510666]	Chr17:28535044 [GRCh38] Chr17:26862062 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+13C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509861]	Chr17:28524105 [GRCh38] Chr17:26851123 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1818G>A (p.Gly606=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509125]	Chr17:28537307 [GRCh38] Chr17:26864325 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1263A>G (p.Pro421=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509127]	Chr17:28534834 [GRCh38] Chr17:26861852 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1095G>A (p.Arg365=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003834810]	Chr17:28534498 [GRCh38] Chr17:26861516 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.660G>A (p.Leu220=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003811663]	Chr17:28527322 [GRCh38] Chr17:26854340 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.30C>T (p.Asp10=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003850166]	Chr17:28523999 [GRCh38] Chr17:26851017 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.66G>A (p.Glu22=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620574]	Chr17:28524035 [GRCh38] Chr17:26851053 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.968T>C (p.Leu323Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620771]	Chr17:28534371 [GRCh38] Chr17:26861389 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.256C>T (p.Pro86Ser)	single nucleotide variant	Inborn genetic diseases [RCV004980937]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619289]	Chr17:28524635 [GRCh38] Chr17:26851653 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.124-12C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619162]	Chr17:28524491 [GRCh38] Chr17:26851509 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.366C>T (p.Pro122=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003852372]	Chr17:28524745 [GRCh38] Chr17:26851763 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1940T>C (p.Leu647Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620597]	Chr17:28537429 [GRCh38] Chr17:26864447 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1064del (p.Lys355fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620780]	Chr17:28534466 [GRCh38] Chr17:26861484 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.588+18G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620937]	Chr17:28524985 [GRCh38] Chr17:26852003 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-11T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620947]	Chr17:28524492 [GRCh38] Chr17:26851510 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.246C>A (p.Cys82Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619918]	Chr17:28524625 [GRCh38] Chr17:26851643 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.928-4G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620525]	Chr17:28534327 [GRCh38] Chr17:26861345 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.579C>T (p.Pro193=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620526]	Chr17:28524958 [GRCh38] Chr17:26851976 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1746C>A (p.Pro582=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619942]	Chr17:28537235 [GRCh38] Chr17:26864253 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1772G>T (p.Gly591Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619943]	Chr17:28537261 [GRCh38] Chr17:26864279 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1651G>A (p.Asp551Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620623]	Chr17:28537140 [GRCh38] Chr17:26864158 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.265G>T (p.Gly89Trp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620816]	Chr17:28524644 [GRCh38] Chr17:26851662 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.420C>T (p.Thr140=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620319]	Chr17:28524799 [GRCh38] Chr17:26851817 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.165C>T (p.Gly55=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620832]	Chr17:28524544 [GRCh38] Chr17:26851562 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1668C>T (p.Leu556=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003839796]	Chr17:28537157 [GRCh38] Chr17:26864175 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1689C>T (p.Thr563=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620344]	Chr17:28537178 [GRCh38] Chr17:26864196 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+13G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620372]	Chr17:28534551 [GRCh38] Chr17:26861569 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1220C>G (p.Ser407Ter)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620843]	Chr17:28534791 [GRCh38] Chr17:26861809 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.120G>A (p.Gln40=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620079]	Chr17:28524089 [GRCh38] Chr17:26851107 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.831-12C>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620089]	Chr17:28530737 [GRCh38] Chr17:26857755 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.927G>A (p.Lys309=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620688]	Chr17:28530845 [GRCh38] Chr17:26857863 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1627+15G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620859]	Chr17:28535213 [GRCh38] Chr17:26862231 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1503C>T (p.His501=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620313]	Chr17:28535074 [GRCh38] Chr17:26862092 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.588+20G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620315]	Chr17:28524987 [GRCh38] Chr17:26852005 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1728A>G (p.Pro576=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620867]	Chr17:28537217 [GRCh38] Chr17:26864235 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.683A>G (p.Gln228Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619490]	Chr17:28527345 [GRCh38] Chr17:26854363 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.252C>T (p.Ala84=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620405]	Chr17:28524631 [GRCh38] Chr17:26851649 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-12C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620711]	Chr17:28524491 [GRCh38] Chr17:26851509 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1151del (p.Leu384fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620872]	Chr17:28534722 [GRCh38] Chr17:26861740 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1438G>A (p.Glu480Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619541]	Chr17:28535009 [GRCh38] Chr17:26862027 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.959G>A (p.Arg320Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619354]	Chr17:28534362 [GRCh38] Chr17:26861380 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1331T>A (p.Met444Lys)	single nucleotide variant	Inborn genetic diseases [RCV004371720]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620891]	Chr17:28534902 [GRCh38] Chr17:26861920 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1884C>A (p.Pro628=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003835960]	Chr17:28537373 [GRCh38] Chr17:26864391 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.879C>T (p.Pro293=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619637]	Chr17:28530797 [GRCh38] Chr17:26857815 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.204C>T (p.Pro68=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619642]	Chr17:28524583 [GRCh38] Chr17:26851601 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1035G>T (p.Leu345=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620902]	Chr17:28534438 [GRCh38] Chr17:26861456 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+8T>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619630]	Chr17:28529232 [GRCh38] Chr17:26856250 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.870G>C (p.Gly290=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620540]	Chr17:28530788 [GRCh38] Chr17:26857806 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1938C>A (p.Ala646=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620916]	Chr17:28537427 [GRCh38] Chr17:26864445 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1695C>T (p.Ser565=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619158]	Chr17:28537184 [GRCh38] Chr17:26864202 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.804C>T (p.Leu268=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620084]	Chr17:28529198 [GRCh38] Chr17:26856216 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.588+15C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620291]	Chr17:28524982 [GRCh38] Chr17:26852000 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+12G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620279]	Chr17:28524104 [GRCh38] Chr17:26851122 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1136-13_1136-12del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620519]	Chr17:28534694..28534695 [GRCh38] Chr17:26861712..26861713 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.453C>G (p.Thr151=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619345]	Chr17:28524832 [GRCh38] Chr17:26851850 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.762G>A (p.Gln254=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620125]	Chr17:28529156 [GRCh38] Chr17:26856174 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+13C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620132]	Chr17:28529237 [GRCh38] Chr17:26856255 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.228G>A (p.Glu76=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620401]	Chr17:28524607 [GRCh38] Chr17:26851625 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1515A>G (p.Leu505=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620625]	Chr17:28535086 [GRCh38] Chr17:26862104 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.261C>T (p.Gly87=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620142]	Chr17:28524640 [GRCh38] Chr17:26851658 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.654T>A (p.Pro218=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620148]	Chr17:28527316 [GRCh38] Chr17:26854334 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1312C>T (p.Pro438Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620157]	Chr17:28534883 [GRCh38] Chr17:26861901 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.588+17A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620168]	Chr17:28524984 [GRCh38] Chr17:26852002 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-16C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620422]	Chr17:28524487 [GRCh38] Chr17:26851505 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1155T>A (p.Ile385=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620561]	Chr17:28534726 [GRCh38] Chr17:26861744 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.18G>A (p.Pro6=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619535]	Chr17:28523987 [GRCh38] Chr17:26851005 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-5G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620192]	Chr17:28534326 [GRCh38] Chr17:26861344 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1789T>C (p.Leu597=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620206]	Chr17:28537278 [GRCh38] Chr17:26864296 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+11G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619377]	Chr17:28527372 [GRCh38] Chr17:26854390 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.177G>A (p.Arg59=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619423]	Chr17:28524556 [GRCh38] Chr17:26851574 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1196G>T (p.Cys399Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619432]	Chr17:28534767 [GRCh38] Chr17:26861785 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1842C>T (p.Thr614=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003836494]	Chr17:28537331 [GRCh38] Chr17:26864349 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.810A>C (p.Pro270=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619600]	Chr17:28529204 [GRCh38] Chr17:26856222 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1681C>T (p.Leu561=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619466]	Chr17:28537170 [GRCh38] Chr17:26864188 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1881C>T (p.Pro627=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619483]	Chr17:28537370 [GRCh38] Chr17:26864388 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1899C>A (p.Gly633=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620230]	Chr17:28537388 [GRCh38] Chr17:26864406 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.429C>T (p.Ala143=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619532]	Chr17:28524808 [GRCh38] Chr17:26851826 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1135+9G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619556]	Chr17:28534547 [GRCh38] Chr17:26861565 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.831-18G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619597]	Chr17:28530731 [GRCh38] Chr17:26857749 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.156G>A (p.Val52=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619560]	Chr17:28524535 [GRCh38] Chr17:26851553 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1878G>A (p.Thr626=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619577]	Chr17:28537367 [GRCh38] Chr17:26864385 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1035G>A (p.Leu345=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619622]	Chr17:28534438 [GRCh38] Chr17:26861456 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+14T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619647]	Chr17:28529238 [GRCh38] Chr17:26856256 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.399C>T (p.Asp133=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003852163]	Chr17:28524778 [GRCh38] Chr17:26851796 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.807C>T (p.Phe269=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619928]	Chr17:28529201 [GRCh38] Chr17:26856219 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1924_1930del (p.Ser642fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619876]	Chr17:28537410..28537416 [GRCh38] Chr17:26864428..26864434 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.561C>T (p.Pro187=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619955]	Chr17:28524940 [GRCh38] Chr17:26851958 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.993G>A (p.Lys331=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619975]	Chr17:28534396 [GRCh38] Chr17:26861414 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.15C>T (p.Pro5=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619976]	Chr17:28523984 [GRCh38] Chr17:26851002 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.879C>A (p.Pro293=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620006]	Chr17:28530797 [GRCh38] Chr17:26857815 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1071A>G (p.Gln357=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619972]	Chr17:28534474 [GRCh38] Chr17:26861492 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.477G>A (p.Glu159=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619916]	Chr17:28524856 [GRCh38] Chr17:26851874 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.750C>T (p.His250=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619966]	Chr17:28529144 [GRCh38] Chr17:26856162 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.589-20T>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619929]	Chr17:28527231 [GRCh38] Chr17:26854249 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1914C>T (p.Leu638=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620099]	Chr17:28537403 [GRCh38] Chr17:26864421 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.483C>A (p.Ile161=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620443]	Chr17:28524862 [GRCh38] Chr17:26851880 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.690C>A (p.Pro230=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619982]	Chr17:28527352 [GRCh38] Chr17:26854370 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1203C>T (p.Pro401=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003811235]	Chr17:28534774 [GRCh38] Chr17:26861792 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+18G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619973]	Chr17:28527379 [GRCh38] Chr17:26854397 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.282A>G (p.Ser94=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619978]	Chr17:28524661 [GRCh38] Chr17:26851679 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.700-9C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620452]	Chr17:28529085 [GRCh38] Chr17:26856103 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.162C>A (p.Asp54Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620457]	Chr17:28524541 [GRCh38] Chr17:26851559 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.363G>A (p.Ala121=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620371]	Chr17:28524742 [GRCh38] Chr17:26851760 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.936C>G (p.Pro312=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003836453]	Chr17:28534339 [GRCh38] Chr17:26861357 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1136-8C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003855184]	Chr17:28534699 [GRCh38] Chr17:26861717 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.700-19C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003815027]	Chr17:28529075 [GRCh38] Chr17:26856093 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1617C>T (p.Phe539=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003855140]	Chr17:28535188 [GRCh38] Chr17:26862206 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.588+9T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003838184]	Chr17:28524976 [GRCh38] Chr17:26851994 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1210C>T (p.Leu404=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003849715]	Chr17:28534781 [GRCh38] Chr17:26861799 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.504C>T (p.Ala168=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003855348]	Chr17:28524883 [GRCh38] Chr17:26851901 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.912C>T (p.His304=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619252]	Chr17:28530830 [GRCh38] Chr17:26857848 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1641A>G (p.Glu547=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619258]	Chr17:28537130 [GRCh38] Chr17:26864148 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1710G>C (p.Ser570=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003619189]	Chr17:28537199 [GRCh38] Chr17:26864217 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.586C>T (p.Leu196=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003845220]	Chr17:28524965 [GRCh38] Chr17:26851983 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.763C>A (p.Arg255=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621112]	Chr17:28529157 [GRCh38] Chr17:26856175 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.246C>T (p.Cys82=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621486]	Chr17:28524625 [GRCh38] Chr17:26851643 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.700-18C>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621260]	Chr17:28529076 [GRCh38] Chr17:26856094 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+7C>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621263]	Chr17:28527368 [GRCh38] Chr17:26854386 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1485C>T (p.Ala495=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003860245]	Chr17:28535056 [GRCh38] Chr17:26862074 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1194C>G (p.Gly398=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620993]	Chr17:28534765 [GRCh38] Chr17:26861783 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1770A>G (p.Thr590=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621056]	Chr17:28537259 [GRCh38] Chr17:26864277 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.281C>T (p.Ser94Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621107]	Chr17:28524660 [GRCh38] Chr17:26851678 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1314_1315dup (p.Leu439fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621391]	Chr17:28534881..28534882 [GRCh38] Chr17:26861899..26861900 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1389C>T (p.Ala463=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621496]	Chr17:28534960 [GRCh38] Chr17:26861978 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1826G>A (p.Gly609Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621499]	Chr17:28537315 [GRCh38] Chr17:26864333 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.741C>A (p.Gly247=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003819159]	Chr17:28529135 [GRCh38] Chr17:26856153 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.36G>A (p.Thr12=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003858746]	Chr17:28524005 [GRCh38] Chr17:26851023 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1362A>G (p.Thr454=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620995]	Chr17:28534933 [GRCh38] Chr17:26861951 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.952T>C (p.Ser318Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621038]	Chr17:28534355 [GRCh38] Chr17:26861373 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1628-13_1628-12del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003819180]	Chr17:28537104..28537105 [GRCh38] Chr17:26864122..26864123 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.830+18_830+19inv	inversion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003872386]	Chr17:28529242..28529243 [GRCh38] Chr17:26856260..26856261 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.351G>A (p.Lys117=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621023]	Chr17:28524730 [GRCh38] Chr17:26851748 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.234C>A (p.Val78=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621212]	Chr17:28524613 [GRCh38] Chr17:26851631 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+18G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621140]	Chr17:28524110 [GRCh38] Chr17:26851128 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.201C>T (p.Ser67=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003868033]	Chr17:28524580 [GRCh38] Chr17:26851598 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1627+11G>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003867384]	Chr17:28535209 [GRCh38] Chr17:26862227 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.458G>A (p.Gly153Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003843016]	Chr17:28524837 [GRCh38] Chr17:26851855 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.700-20G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003844404]	Chr17:28529074 [GRCh38] Chr17:26856092 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.62del (p.Gly21fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620998]	Chr17:28524029 [GRCh38] Chr17:26851047 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.975C>T (p.Leu325=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621120]	Chr17:28534378 [GRCh38] Chr17:26861396 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1733C>A (p.Pro578His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621198]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005014860]	Chr17:28537222 [GRCh38] Chr17:26864240 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.21G>A (p.Pro7=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003865511]	Chr17:28523990 [GRCh38] Chr17:26851008 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+4G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621319]	Chr17:28527365 [GRCh38] Chr17:26854383 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.552C>T (p.Leu184=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621345]	Chr17:28524931 [GRCh38] Chr17:26851949 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1365C>T (p.Tyr455=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621384]	Chr17:28534936 [GRCh38] Chr17:26861954 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.124-9T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003861559]\|not provided [RCV004703338]	Chr17:28524494 [GRCh38] Chr17:26851512 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.596A>T (p.Glu199Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621067]	Chr17:28527258 [GRCh38] Chr17:26854276 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.393T>C (p.His131=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003857035]	Chr17:28524772 [GRCh38] Chr17:26851790 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.456A>G (p.Pro152=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621173]	Chr17:28524835 [GRCh38] Chr17:26851853 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+25_123+42del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621097]	Chr17:28524111..28524128 [GRCh38] Chr17:26851129..26851146 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1627+11G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621206]	Chr17:28535209 [GRCh38] Chr17:26862227 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.576C>A (p.Gly192=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621232]	Chr17:28524955 [GRCh38] Chr17:26851973 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.396G>A (p.Glu132=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621082]	Chr17:28524775 [GRCh38] Chr17:26851793 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.928-20G>T	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621075]	Chr17:28534311 [GRCh38] Chr17:26861329 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.348C>T (p.Leu116=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621249]	Chr17:28524727 [GRCh38] Chr17:26851745 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1890C>A (p.Ala630=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621372]	Chr17:28537379 [GRCh38] Chr17:26864397 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.802C>G (p.Leu268Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003846699]	Chr17:28529196 [GRCh38] Chr17:26856214 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1860T>C (p.Phe620=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621360]	Chr17:28537349 [GRCh38] Chr17:26864367 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1674C>T (p.Pro558=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621494]	Chr17:28537163 [GRCh38] Chr17:26864181 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.954T>C (p.Ser318=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003621452]	Chr17:28534357 [GRCh38] Chr17:26861375 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.258C>A (p.Pro86=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003844860]	Chr17:28524637 [GRCh38] Chr17:26851655 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1446G>A (p.Arg482=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003862136]	Chr17:28535017 [GRCh38] Chr17:26862035 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1157G>A (p.Gly386Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003818980]	Chr17:28534728 [GRCh38] Chr17:26861746 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1799C>T (p.Pro600Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005063206]\|not provided [RCV003885246]	Chr17:28537288 [GRCh38] Chr17:26864306 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.38T>C (p.Leu13Pro)	single nucleotide variant	Inborn genetic diseases [RCV004621247]	Chr17:28524007 [GRCh38] Chr17:26851025 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)	duplication	Severe combined immunodeficiency disease [RCV004587812]	Chr17:28534784..28534785 [GRCh38] Chr17:26861802..26861803 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1685T>C (p.Val562Ala)	single nucleotide variant	Inborn genetic diseases [RCV004621245]	Chr17:28537174 [GRCh38] Chr17:26864192 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1763C>A (p.Thr588Lys)	single nucleotide variant	not provided [RCV004763106]	Chr17:28537252 [GRCh38] Chr17:26864270 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1178del (p.Gly393fs)	deletion	not provided [RCV004810342]	Chr17:28534747 [GRCh38] Chr17:26861765 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1455del (p.Gly486fs)	deletion	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV004723683]	Chr17:28535026 [GRCh38] Chr17:26862044 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.880G>A (p.Val294Ile)	single nucleotide variant	Severe combined immunodeficiency disease [RCV005419786]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004775659]	Chr17:28530798 [GRCh38] Chr17:26857816 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1168del (p.Glu390fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004775660]	Chr17:28534739 [GRCh38] Chr17:26861757 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1296del (p.Ile433fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004775661]	Chr17:28534864 [GRCh38] Chr17:26861882 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1275_1278del (p.Leu426fs)	microsatellite	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004775662]	Chr17:28534841..28534844 [GRCh38] Chr17:26861859..26861862 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1579_1580del (p.Gly526_Thr527insTer)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV004775663]	Chr17:28535149..28535150 [GRCh38] Chr17:26862167..26862168 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.575G>A (p.Gly192Asp)	single nucleotide variant	FOXN1-related disorder [RCV004727968]	Chr17:28524954 [GRCh38] Chr17:26851972 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.-11A>T	single nucleotide variant	not specified [RCV004703050]	Chr17:28523959 [GRCh38] Chr17:26850977 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.943_957del (p.Trp315_Val319del)	deletion	not provided [RCV004763144]	Chr17:28534345..28534359 [GRCh38] Chr17:26861363..26861377 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1480C>T (p.Pro494Ser)	single nucleotide variant	Inborn genetic diseases [RCV004980074]	Chr17:28535051 [GRCh38] Chr17:26862069 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1427A>C (p.Asp476Ala)	single nucleotide variant	Inborn genetic diseases [RCV004980073]	Chr17:28534998 [GRCh38] Chr17:26862016 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.461C>T (p.Pro154Leu)	single nucleotide variant	Inborn genetic diseases [RCV004980071]	Chr17:28524840 [GRCh38] Chr17:26851858 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.634G>C (p.Gly212Arg)	single nucleotide variant	Inborn genetic diseases [RCV004980072]	Chr17:28527296 [GRCh38] Chr17:26854314 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1574T>C (p.Leu525Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005172787]	Chr17:28535145 [GRCh38] Chr17:26862163 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.568G>A (p.Glu190Lys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005060459]	Chr17:28524947 [GRCh38] Chr17:26851965 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1830C>T (p.Asp610=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005196692]	Chr17:28537319 [GRCh38] Chr17:26864337 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.115C>T (p.Pro39Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005173723]	Chr17:28524084 [GRCh38] Chr17:26851102 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu)	single nucleotide variant	Autism [RCV000192344]\|not specified [RCV005406923]	Chr17:28524525 [GRCh38] Chr17:26851543 [GRCh37] Chr17:17q11.2	likely pathogenic\|uncertain significance
NM_001369369.1(FOXN1):c.160G>A (p.Asp54Asn)	single nucleotide variant	FOXN1-related disorder [RCV004740461]\|Inborn genetic diseases [RCV002536014]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000824181]	Chr17:28524539 [GRCh38] Chr17:26851557 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1121G>A (p.Ser374Asn)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001368281]	Chr17:28534524 [GRCh38] Chr17:26861542 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1474C>A (p.Pro492Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928380]	Chr17:28535045 [GRCh38] Chr17:26862063 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.348C>G (p.Leu116=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002210451]	Chr17:28524727 [GRCh38] Chr17:26851745 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.81C>T (p.Leu27=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002160427]	Chr17:28524050 [GRCh38] Chr17:26851068 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1382G>T (p.Gly461Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002297396]	Chr17:28534953 [GRCh38] Chr17:26861971 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1621T>C (p.Phe541Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002948812]	Chr17:28535192 [GRCh38] Chr17:26862210 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1627+12G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002805437]	Chr17:28535210 [GRCh38] Chr17:26862228 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.150A>G (p.Ser50=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002894511]	Chr17:28524529 [GRCh38] Chr17:26851547 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.341G>A (p.Arg114Gln)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002588151]	Chr17:28524720 [GRCh38] Chr17:26851738 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1436T>A (p.Leu479His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511316]	Chr17:28535007 [GRCh38] Chr17:26862025 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.284C>A (p.Pro95His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005084994]	Chr17:28524663 [GRCh38] Chr17:26851681 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.700-9C>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620265]	Chr17:28529085 [GRCh38] Chr17:26856103 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.519T>A (p.Pro173=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003620273]	Chr17:28524898 [GRCh38] Chr17:26851916 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.685C>G (p.Pro229Ala)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003870036]	Chr17:28527347 [GRCh38] Chr17:26854365 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.58G>C (p.Glu20Gln)	single nucleotide variant	Inborn genetic diseases [RCV004392379]	Chr17:28524027 [GRCh38] Chr17:26851045 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.112G>A (p.Ala38Thr)	single nucleotide variant	Inborn genetic diseases [RCV004392376]	Chr17:28524081 [GRCh38] Chr17:26851099 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1505G>A (p.Ser502Asn)	single nucleotide variant	Inborn genetic diseases [RCV004392377]	Chr17:28535076 [GRCh38] Chr17:26862094 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1535C>A (p.Ala512Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005104956]\|not provided [RCV004769792]	Chr17:28535106 [GRCh38] Chr17:26862124 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.83T>C (p.Met28Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005174621]	Chr17:28524052 [GRCh38] Chr17:26851070 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1046del (p.Asn349fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005018086]	Chr17:28534448 [GRCh38] Chr17:26861466 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.174G>C (p.Glu58Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005060907]	Chr17:28524553 [GRCh38] Chr17:26851571 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1154T>C (p.Ile385Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005085622]	Chr17:28534725 [GRCh38] Chr17:26861743 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.588+17_588+18delinsCC	indel	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005085361]	Chr17:28524984..28524985 [GRCh38] Chr17:26852002..26852003 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.416A>G (p.Glu139Gly)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005086091]	Chr17:28524795 [GRCh38] Chr17:26851813 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.124-18T>C	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005086303]	Chr17:28524485 [GRCh38] Chr17:26851503 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1242A>G (p.Ala414=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005145798]	Chr17:28534813 [GRCh38] Chr17:26861831 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1249G>C (p.Ala417Pro)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005086103]	Chr17:28534820 [GRCh38] Chr17:26861838 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.123T>C (p.Ser41=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005181486]	Chr17:28524092 [GRCh38] Chr17:26851110 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.699+20G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005080465]	Chr17:28527381 [GRCh38] Chr17:26854399 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.335C>T (p.Pro112Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005070608]	Chr17:28524714 [GRCh38] Chr17:26851732 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1124T>C (p.Met375Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005155180]	Chr17:28534527 [GRCh38] Chr17:26861545 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.195A>C (p.Pro65=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005119579]	Chr17:28524574 [GRCh38] Chr17:26851592 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.392A>G (p.His131Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005076392]	Chr17:28524771 [GRCh38] Chr17:26851789 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.206G>A (p.Arg69His)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005077495]	Chr17:28524585 [GRCh38] Chr17:26851603 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.891C>T (p.Ile297=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005120043]	Chr17:28530809 [GRCh38] Chr17:26857827 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1297A>T (p.Ile433Phe)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005189193]	Chr17:28534868 [GRCh38] Chr17:26861886 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1944A>G (p.Ala648=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005113370]	Chr17:28537433 [GRCh38] Chr17:26864451 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.806dup (p.Pro272fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005143254]	Chr17:28529198..28529199 [GRCh38] Chr17:26856216..26856217 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.582A>T (p.Gln194His)	single nucleotide variant	Inborn genetic diseases [RCV005338566]\|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005150900]	Chr17:28524961 [GRCh38] Chr17:26851979 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1114C>T (p.Arg372Cys)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005181697]	Chr17:28534517 [GRCh38] Chr17:26861535 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.378C>T (p.Tyr126=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005166316]	Chr17:28524757 [GRCh38] Chr17:26851775 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1116C>T (p.Arg372=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005144079]	Chr17:28534519 [GRCh38] Chr17:26861537 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.542G>A (p.Cys181Tyr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005084486]	Chr17:28524921 [GRCh38] Chr17:26851939 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.480G>T (p.Glu160Asp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005083469]	Chr17:28524859 [GRCh38] Chr17:26851877 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.124-2A>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005123047]	Chr17:28524501 [GRCh38] Chr17:26851519 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.1201C>A (p.Pro401Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005157615]	Chr17:28534772 [GRCh38] Chr17:26861790 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1465C>G (p.Gln489Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005136738]	Chr17:28535036 [GRCh38] Chr17:26862054 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1737C>T (p.His579=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005166530]	Chr17:28537226 [GRCh38] Chr17:26864244 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.699+3_699+6del	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005135297]	Chr17:28527361..28527364 [GRCh38] Chr17:26854379..26854382 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1184del (p.Pro395fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005207840]\|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV005416795]	Chr17:28534752 [GRCh38] Chr17:26861770 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.510C>T (p.Ala170=)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005080214]	Chr17:28524889 [GRCh38] Chr17:26851907 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.1744C>T (p.Pro582Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005080244]	Chr17:28537233 [GRCh38] Chr17:26864251 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1192G>C (p.Gly398Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005195018]	Chr17:28534763 [GRCh38] Chr17:26861781 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.598G>A (p.Val200Ile)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005163095]	Chr17:28527260 [GRCh38] Chr17:26854278 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1241C>A (p.Ala414Glu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005111489]	Chr17:28534812 [GRCh38] Chr17:26861830 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.35C>G (p.Thr12Arg)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005108123]	Chr17:28524004 [GRCh38] Chr17:26851022 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1409C>T (p.Pro470Leu)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005177838]	Chr17:28534980 [GRCh38] Chr17:26861998 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1238del (p.Leu413fs)	deletion	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005115885]	Chr17:28534809 [GRCh38] Chr17:26861827 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1465dup (p.Gln489fs)	duplication	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005201168]	Chr17:28535030..28535031 [GRCh38] Chr17:26862048..26862049 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1627+8G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005122661]	Chr17:28535206 [GRCh38] Chr17:26862224 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.804_805del (p.Phe269fs)	microsatellite	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005199553]	Chr17:28529194..28529195 [GRCh38] Chr17:26856212..26856213 [GRCh37] Chr17:17q11.2	pathogenic
NM_001369369.1(FOXN1):c.1027G>A (p.Gly343Ser)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005110886]	Chr17:28534430 [GRCh38] Chr17:26861448 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1267C>G (p.Leu423Val)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005393811]	Chr17:28534838 [GRCh38] Chr17:26861856 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.704C>G (p.Ser235Trp)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005393828]	Chr17:28529098 [GRCh38] Chr17:26856116 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1906G>A (p.Val636Met)	single nucleotide variant	Inborn genetic diseases [RCV005340008]	Chr17:28537395 [GRCh38] Chr17:26864413 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1747C>A (p.Pro583Thr)	single nucleotide variant	Inborn genetic diseases [RCV005340011]	Chr17:28537236 [GRCh38] Chr17:26864254 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.727A>T (p.Ile243Leu)	single nucleotide variant	Inborn genetic diseases [RCV005340009]	Chr17:28529121 [GRCh38] Chr17:26856139 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1045A>G (p.Asn349Asp)	single nucleotide variant	Inborn genetic diseases [RCV005340006]	Chr17:28534448 [GRCh38] Chr17:26861466 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1453C>T (p.Pro485Ser)	single nucleotide variant	Inborn genetic diseases [RCV005340010]	Chr17:28535024 [GRCh38] Chr17:26862042 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.1318C>G (p.Gln440Glu)	single nucleotide variant	Inborn genetic diseases [RCV005340007]	Chr17:28534889 [GRCh38] Chr17:26861907 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.460C>A (p.Pro154Thr)	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005393816]	Chr17:28524839 [GRCh38] Chr17:26851857 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001369369.1(FOXN1):c.85C>T (p.Gln29Ter)	single nucleotide variant	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV005420487]	Chr17:28524054 [GRCh38] Chr17:26851072 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_001369369.1(FOXN1):c.699+8T>G	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005135049]	Chr17:28527369 [GRCh38] Chr17:26854387 [GRCh37] Chr17:17q11.2	likely benign
NM_001369369.1(FOXN1):c.123+1G>A	single nucleotide variant	T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV005018085]	Chr17:28524093 [GRCh38] Chr17:26851111 [GRCh37] Chr17:17q11.2	likely pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1463
Count of miRNA genes:	802
Interacting mature miRNAs:	917
Transcripts:	ENST00000226247, ENST00000577936, ENST00000579795
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597360122	GWAS1456196_H	tonsillectomy risk measurement QTL GWAS1456196 (human)		1e-08	tonsillectomy risk measurement		17	28531377	28531378	Human
597409960	GWAS1506034_H	volumetric bone mineral density QTL GWAS1506034 (human)		0.000008	bone mineral mass (VT:0005007)	volumetric bone mineral density (CMO:0001553)	17	28537284	28537285	Human
1298406	BP16_H	Blood pressure QTL 16 (human)		0.0004	Blood pressure	hypertension susceptibility	17	14778647	40778647	Human
597273567	GWAS1369641_H	COVID-19 QTL GWAS1369641 (human)		0.000008	COVID-19		17	28528953	28528954	Human
597273617	GWAS1369691_H	vitronectin measurement QTL GWAS1369691 (human)		5e-12	vitronectin measurement		17	28525436	28525437	Human
597182707	GWAS1278781_H	disorder of pharynx QTL GWAS1278781 (human)		6e-09	disorder of pharynx		17	28534546	28534547	Human
597409958	GWAS1506032_H	volumetric bone mineral density QTL GWAS1506032 (human)		0.000001	bone mineral mass (VT:0005007)	volumetric bone mineral density (CMO:0001553)	17	28537284	28537285	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
844	1757	2117	1477	3124	1229	1898	2	359	968	200	1769	4557	4146	11	2063	672	1421	1433	169

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_007260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011525370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317561	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC015917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF086453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI288186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313878	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT583855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000226247 ⟹ ENSP00000226247

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	28,523,941 - 28,538,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000577936 ⟹ ENSP00000462159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	28,506,243 - 28,538,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000579795 ⟹ ENSP00000464645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	28,506,348 - 28,538,900 (+)	Ensembl

RefSeq Acc Id:

NM_001369369 ⟹ NP_001356298

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

Sequence:

show sequence

ACAGACACAGGACGGCCGAGCTGACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCC
GGGCCCCCACGCCGACCTGCTTCACTGAGCAGGCCAGGACTGGGTGATGGTGTCGCTACCCCCG
CCGCAGTCTGACGTCACGCTGCCGGGCCCCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCA
TGCAGGCACCGGGCCTCCCAGGCTCCCCTGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTC
GTCATTTGTGTCCGACGGCCCTCCAGAGAGGACACCCTCACTGCCCCCACACAGCCCCCGCATT
GCGTCACCAGGGCCCGAGCAAGTCCAGGGCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCA
GGCTCTCACCCTCAGACAAGTATCCTGGCTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGG
GCGATTCCTCAAGGGCAGCCACGCGCCCTTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTC
TTCCCAGAGGCCGAGACCACCCTGGCCCTCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGG
AGGCCTTCGAGGAGATCCCAGTGGACGTGGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGC
AGAGGCCTGGTGTAACGGGCTCCCCTACCCCAGCCAGGAGCATGGCCCCCAAGTCCTGGGTTCA
GAGGTCAAAGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCT
TGCAGCATATGTACTGCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTA
CCCCATACCCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACC
GATGGGCACCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCC
TTAAGAACAGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTT
TCCTTACTTCAAGACAGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAAC
AAGTGCTTCGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCC
TCAATCCGGCCAAGATCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCAT
TGCTGTGCGCAAAAGCATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAA
AAGCTGGGCTCCCCACTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGC
CCCTGGCACCCCCAGCTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCAT
TCCTGGCAAGAACCCCCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACA
TACTTGCACCTCTCACCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGG
ACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACAC
CCCACCCAGCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACC
CTGCTGCCAGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCG
ACTTCCAGGGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACT
GGTGACCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCC
CCTGGGCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTG
GCTCCGGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCC
CACGCCCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCC
CTGGCATGAGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGG
CCGCCCACATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACT
AAGCCAACGTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCT
CACACATTTCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGG
GCAAGAGGAAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACA
CAAATTATTCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACT
GAGAGCCCGACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGG
CCCTGTGCCAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTG
GCCCCCTCGTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAG
CCCAGCAAGAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTG
CTAATTGGCAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTC
CCCAGGGTGACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGC
AGTGTTTGGAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGC
AGGAAGGGCCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGT
TTAGGTCCTGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTG
CAAAAGCAATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATT
GTAAATTGAAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGG
GTTTCTCCGGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCA
GGCAACCTGGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCA
CCCCCGCTTTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCT
GCGGGGTGTGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCC
TGGGCCTGGGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGAT
CCCGCGATGGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACT
A

hide sequence

RefSeq Acc Id:

NM_003593 ⟹ NP_003584

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,523,941 - 28,538,900 (+)	NCBI
GRCh37	17	26,833,249 - 26,865,175 (+)	NCBI
Build 36	17	23,875,086 - 23,889,302 (+)	NCBI Archive
HuRef	17	23,059,775 - 23,073,995 (+)	ENTREZGENE
CHM1_1	17	26,912,657 - 26,926,877 (+)	NCBI
T2T-CHM13v2.0	17	29,466,557 - 29,481,520 (+)	NCBI

Sequence:

show sequence

ACGGCTTTCTTTGAGGCCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCAC
GCTGCCGGGCCCCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTC
CCAGGCTCCCCTGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACG
GCCCTCCAGAGAGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGA
GCAAGTCCAGGGCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGAC
AAGTATCCTGGCTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCA
GCCACGCGCCCTTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGAC
CACCCTGGCCCTCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAGATC
CCAGTGGACGTGGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGTGTAACG
GGCTCCCCTACCCCAGCCAGGAGCATGGCCCCCAAGTCCTGGGTTCAGAGGTCAAAGTCAAGCC
CCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGC
TCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGG
GCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCT
CTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACT
GGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAG
CACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGT
GGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATC
GACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCA
TGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGGCTCCCCACT
CCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCACCCCCAGCT
GGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCAAGAACCCCC
TGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCACCTCTCACC
AGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAGCTG
CGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGCCACAGTG
CCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCCAGATGGAGA
CCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAGGGAAACCTG
TGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCTCATCCCCGA
CATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCCCTGTCTGAC
AGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGGGCACTGGGT
GACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCCCCACGGCCC
CTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATGAGCTGTGCC
CAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCACATCGGGCTC
ACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAACGTGTGTGTC
AGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATTTCTGCCACG
TGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGGAAAATGCCC
TGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTATTCAGATGTA
CACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCCGACTTCGTT
TCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGCCAGGCCAAA
GATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTCGTCATTTTC
TTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAAGAAGGAGGA
GACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGGCAGCACCCA
CTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGTGACATACAG
AAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTGGAAAAGCCC
TTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGGCCCCCTCCA
GGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCCTGGCTTAAC
TCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCAATACACATT
CAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTGAAACCACCG
AAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCCGGATGTAGC
CCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCTGGGCATTCA
GGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCTTTGACTGCT
TGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTGTGGCCCAGG
TGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTGGGGGTGACA
AGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGATGGCTTGTCA
TTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_011525358 ⟹ XP_011523660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

AGCTTCTTAGTCACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCCTCCGGGCAAGGGGAAGCTG
ATATCATAATTATTGGCTCACCTGGCAGCTGCCTCCCCTCACCTGATGTCAGCACAGACACAGG
ACGGCCGAGCTGACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCCGGGCCCCCACG
CCGACCTGCTTCACTGAGCAGGCCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGA
CGTCACGCTGCCGGGCCCCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCG
GGCCTCCCAGGCTCCCCTGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGT
CCGACGGCCCTCCAGAGAGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGG
GCCCGAGCAAGTCCAGGGCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCC
TCAGACAAGTATCCTGGCTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCA
AGGGCAGCCACGCGCCCTTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGC
CGAGACCACCCTGGCCCTCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAG
GAGATCCCAGTGGACGTGGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGT
GTAACGGGCTCCCCTACCCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTCAGAGGTCAA
AGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCAT
ATGTACTGCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATAC
CCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCA
CCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAAC
AGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACT
TCAAGACAGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTT
CGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCG
GCCAAGATCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGC
GCAAAAGCATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGG
CTCCCCACTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCA
CCCCCAGCTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCA
AGAACCCCCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCA
CCTCTCACCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCAC
CTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCA
GCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCC
AGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAG
GGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCT
CATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCC
CTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGG
GCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCC
CCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATG
AGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCAC
ATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAAC
GTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATT
TCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGG
AAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTAT
TCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCC
GACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGC
CAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTC
GTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAA
GAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGG
CAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGT
GACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTG
GAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGG
CCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCC
TGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCA
ATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTG
AAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCC
GGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCT
GGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCT
TTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTG
TGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTG
GGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGAT
GGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_011525359 ⟹ XP_011523661

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

ACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCCTCCGGGCAAGGGGAAGCTGATATCATAATTA
TTGGCTCACCTGGCAGCTGCCTCCCCTCACCTGATGTCAGCACAGACACAGGACGGCCGAGCTG
ACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCCGGGCCCCCACGCCGACCTGCTTC
ACTGAGCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCACGCTGCCGGGCC
CCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTCCCAGGCTCCCC
TGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACGGCCCTCCAGAG
AGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGAGCAAGTCCAGG
GCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGACAAGTATCCTGG
CTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCAGCCACGCGCCC
TTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGACCACCCTGGCCC
TCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAGATCCCAGTGGACGT
GGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGTGTAACGGGCTCCCCTAC
CCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTCAGAGGTCAAAGTCAAGCCCCCAGTTC
TGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGCTCCTCCCA
GCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGGGCTCCTCA
CACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCTCTTCCCAA
AACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCT
TCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAGCACCCGAT
GGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACA
AATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGAT
GCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAG
CCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGGCTCCCCACTCCTGGGCT
GTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCACCCCCAGCTGGCCTCTC
CCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCAAGAACCCCCTGCAGGAC
CTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCACCTCTCACCAGGCCTGG
CCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAGCTGCGGGCCCA
GCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGCCACAGTGCCAAGCTA
CTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCCAGATGGAGACCTTGGCA
CTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAGGGAAACCTGTGGGAACA
GTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCTCATCCCCGACATCATCT
TCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCCCTGTCTGACAGAGACAG
GCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGGGCACTGGGTGACCTGCA
CCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCCCCACGGCCCCTGCAGGC
CCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATGAGCTGTGCCCAGCTTCG
TCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCACATCGGGCTCACCTTAAA
GGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAACGTGTGTGTCAGCTGGTA
GCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATTTCTGCCACGTGGTGGCC
CAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGGAAAATGCCCTGTCCCTA
GCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTATTCAGATGTACACCCACC
CACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCCGACTTCGTTTCTGGGGC
AACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGCCAGGCCAAAGATCCCCC
CAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTCGTCATTTTCTTTCCCAG
AAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAAGAAGGAGGAGACAGAGA
GCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGGCAGCACCCACTCAGCCA
TTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGTGACATACAGAAGGGGCA
ACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTGGAAAAGCCCTTGCCCTC
GGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGGCCCCCTCCAGGTCACCA
CAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCCTGGCTTAACTCTACTTA
TGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCAATACACATTCAGTATGT
TCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTGAAACCACCGAAAGTCAA
AAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCCGGATGTAGCCCCATCAT
AAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCTGGGCATTCAGGAGAAAA
GCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCTTTGACTGCTTGGCAGAC
CTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTGTGGCCCAGGTGCCTGCC
ATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTGGGGGTGACAAGAACTTC
CACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGATGGCTTGTCATTGTCCCC
TGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_011525362 ⟹ XP_011523664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

CACAGACACAGGACGGCCGAGCTGACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACC
CGGGCCCCCACGCCGACCTGCTTCACTGAGCAGGCCAGGACTGGGTGATGGTGTCGCTACCCCC
GCCGCAGTCTGACGTCACGCTGCCGGGCCCCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTC
ATGCAGGCACCGGGCCTCCCAGGCTCCCCTGCCCCACAGAGTCATGCCGGCTTCAGCTGCTCGT
CATTTGTGTCCGACGGCCCTCCAGAGAGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGC
GTCACCAGGGCCCGAGCAAGTCCAGGGCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGG
CTCTCACCCTCAGACAAGTATCCTGGCTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGC
GATTCCTCAAGGGCAGCCACGCGCCCTTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTT
CCCAGAGGCCGAGACCACCCTGGCCCTCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAG
GCCTTCGAGGAGATCCCAGTGGACGTGGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAG
AGGCCTGGTGTAACGGGCTCCCCTACCCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTC
AGAGGTCAAAGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCC
TTGCAGCATATGTACTGCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCT
ACCCCATACCCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCAC
CGATGGGCACCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGCC
CTTAAGAACAGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACT
TTCCTTACTTCAAGACAGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAA
CAAGTGCTTCGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCC
CTCAATCCGGCCAAGATCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCA
TTGCTGTGCGCAAAAGCATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGA
AAAGCTGGGCTCCCCACTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGG
CCCCTGGCACCCCCAGCTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCA
TTCCTGGCAAGAACCCCCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGAC
ATACTTGCACCTCTCACCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCG
GACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACA
CCCCACCCAGCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACAC
CCTGCTGCCAGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTC
GACTTCCAGGGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTAC
TGGTGACCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCC
CCCTGGGCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGT
GGCTCCGGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGC
CCACGCCCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGC
CCTGGCATGAGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCG
GCCGCCCACATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCAC
TAAGCCAACGTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTC
TCACACATTTCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTG
GGCAAGAGGAAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACAC
ACAAATTATTCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCAC
TGAGAGCCCGACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGG
GCCCTGTGCCAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCT
GGCCCCCTCGTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACA
GCCCAGCAAGAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCT
GCTAATTGGCAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTT
CCCCAGGGTGACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAG
CAGTGTTTGGAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTG
CAGGAAGGGCCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAG
TTTAGGTCCTGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGT
GCAAAAGCAATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCAT
TGTAAATTGAAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATG
GGTTTCTCCGGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTC
AGGCAACCTGGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGC
ACCCCCGCTTTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCC
TGCGGGGTGTGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACC
CTGGGCCTGGGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGA
TCCCGCGATGGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCAC
TA

hide sequence

RefSeq Acc Id:

XM_011525367 ⟹ XP_011523669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,525,573 - 28,538,900 (+)	NCBI

Sequence:

show sequence

AACATTACCTGTCTCATGGGATTGTTGCTTAGGGAAGATAAAAGCTAAAGGGAATTTGCTCCCT
GCTCCCCCGCTCTGGTTTGGAGGTCCCTGAGGCAGTGACTGAGTGGGCGTAGCCTCAGCAGTGC
CTACTCCACATGCCCACCAGCCCCCCTCACCTCTTGCTTTCAAACAGGCCCCCATTCCAGCCCC
AAGCCACCCCAACAAAGGCTTAGAAGGAAGATGGAGAAGGCGGTTGGGTCCTACCAGGTGTGGC
CAAAACAGGACTTTATTCTGGCCCTTTGACCACTTCTTCTCAGGCCCCTTAAACATGACCACAG
CCTACAGATAGGGCACCATCATCTCAGCTACTGCCCCCAAACCTCCACTCAATAACAGCTGCCA
ATCATTCTGCCAGGTGCTTTCTTTCAAGTGCCCCCATTTAATCCCCTCAACAACACTCTAGAGA
GTTCCCACCATACCCGTGTTGCAGATGAGGAAACTGAGGCTCATAGAGGCCAAGTGACTTGCCC
AGGGTGTCTCCTAACCTGCAAATGGTGAGGCTGAGATTGAGTTCACACCCTTGCCCTCCCACAC
ATGGAGAAGAGCTCCAGAGACACACAGCAGGGTTCAGAGGTCAAAGTCAAGCCCCCAGTTCTGG
AGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGCTCCTCCCAGCC
CCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGGGCTCCTCACAC
TATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCTCTTCCCAAAAC
CCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCTTCC
CGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAGCACCCGATGGC
TGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACAAAT
CAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGATGCA
AGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAGCCA
GAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGGCTCCCCACTCCTGGGCTGTC
CGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCACCCCCAGCTGGCCTCTCCCC
ACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCAAGAACCCCCTGCAGGACCTA
CTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCACCTCTCACCAGGCCTGGCCC
CTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAGCTGCGGGCCCAGCC
AGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGCCACAGTGCCAAGCTACTG
GCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCCAGATGGAGACCTTGGCACTG
ACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAGGGAAACCTGTGGGAACAGTT
GAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCTCATCCCCGACATCATCTTCG
ATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCCCTGTCTGACAGAGACAGGCA
GTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGGGCACTGGGTGACCTGCACCT
CACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCCCCACGGCCCCTGCAGGCCCC
TCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATGAGCTGTGCCCAGCTTCGTCA
GCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCACATCGGGCTCACCTTAAAGGT
CAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAACGTGTGTGTCAGCTGGTAGCT
GGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATTTCTGCCACGTGGTGGCCCAG
CTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGGAAAATGCCCTGTCCCTAGCT
CACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTATTCAGATGTACACCCACCCAC
ATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCCGACTTCGTTTCTGGGGCAAC
TGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGCCAGGCCAAAGATCCCCCCAG
ACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTCGTCATTTTCTTTCCCAGAAG
CGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAAGAAGGAGGAGACAGAGAGCT
CCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGGCAGCACCCACTCAGCCATTC
TCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGTGACATACAGAAGGGGCAACA
TCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTGGAAAAGCCCTTGCCCTCGGA
AACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGGCCCCCTCCAGGTCACCACAA
TCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCCTGGCTTAACTCTACTTATGA
TGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCAATACACATTCAGTATGTTCC
TCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTGAAACCACCGAAAGTCAAAAA
CCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCCGGATGTAGCCCCATCATAAG
TTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCTGGGCATTCAGGAGAAAAGCC
TGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCTTTGACTGCTTGGCAGACCTA
GGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTGTGGCCCAGGTGCCTGCCATG
AGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTGGGGGTGACAAGAACTTCCAC
AGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGATGGCTTGTCATTGTCCCCTGT
CCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_011525368 ⟹ XP_011523670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

AAGAGCCAAGGAGCAAACTAGCTTCTTAGTCACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCC
TCCGGGCAAGGGGAAGCTGATATCATAATTATTGGCTCACCTGGCAGCTGCCTCCCCTCACCTG
ATGTCAGCACAGACACAGGACGGCCGAGCTGACGGACTGACAGACGGACAGAGCTCCTGGCCCC
CCAGACCCGGGCCCCCACGCCGACCTGCTTCACTGAGCAGCAGGGTTCAGAGGTCAAAGTCAAG
CCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACT
GCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCT
GGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCT
CTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAA
CTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGAC
AGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAG
GTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGA
TCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAG
CATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGGCTCCCCA
CTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCACCCCCAG
CTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCAAGAACCC
CCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCACCTCTCA
CCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAGC
TGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGCCACAG
TGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCCAGATGGA
GACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAGGGAAACC
TGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCTCATCCCC
GACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCCCTGTCTG
ACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGGGCACTGG
GTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCCCCACGGC
CCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATGAGCTGTG
CCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCACATCGGGC
TCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAACGTGTGTG
TCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATTTCTGCCA
CGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGGAAAATGC
CCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTATTCAGATG
TACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCCGACTTCG
TTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGCCAGGCCA
AAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTCGTCATTT
TCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAAGAAGGAG
GAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGGCAGCACC
CACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGTGACATAC
AGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTGGAAAAGC
CCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGGCCCCCTC
CAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCCTGGCTTA
ACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCAATACACA
TTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTGAAACCAC
CGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCCGGATGTA
GCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCTGGGCATT
CAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCTTTGACTG
CTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTGTGGCCCA
GGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTGGGGGTGA
CAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGATGGCTTGT
CATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_011525369 ⟹ XP_011523671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,525,182 - 28,538,900 (+)	NCBI

Sequence:

show sequence

AAGCTGGCAGCTTCCCAGAGGCTCCTGAGTCAGGATTCCAGTGTGTGACTTCTCACTGTTTGTT
TAAATGTCCAGAAACTCCAGCCAGACCTACACACCCATATGCAAATGTGACAAGAAAAACACAT
TCCAGAGGCCAAGGGAAAGGGTTTGGGGAGGAGCCATAGTACACAGTTTTTCCCTCCCCAGCCT
TAGCATACAGAGTTGAGAGAGGACTTTAAGTGTGGAGGGACCCTTCCTGGCCCCATTCTTTGCC
CAGAGTGGGGCCTGGGTGTATTCCTGGAAATACCTTGGAAGGTTAACATGTCCTTCCATAGCCT
GACCTCCATAAGCGGCGTGACCCTGGACAAGTCTTAACGTCTCTGAGCCTCATCTGAAAACAGG
GTTCAGAGGTCAAAGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCC
TCCCTTGCAGCATATGTACTGCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGC
AGCTACCCCATACCCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCA
GCACCGATGGGCACCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCAT
GGCCCTTAAGAACAGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAG
CACTTTCCTTACTTCAAGACAGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCC
TCAACAAGTGCTTCGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTG
GGCCCTCAATCCGGCCAAGATCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGAT
CCCATTGCTGTGCGCAAAAGCATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGA
GAGAAAAGCTGGGCTCCCCACTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCAT
CCGGCCCCTGGCACCCCCAGCTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGC
CCCATTCCTGGCAAGAACCCCCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGC
AGACATACTTGCACCTCTCACCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACA
GCCGGACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCC
CACACCCCACCCAGCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACG
ACACCCTGCTGCCAGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGA
CTTCGACTTCCAGGGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTG
GTACTGGTGACCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCT
TCCCCCCTGGGCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAG
TGGTGGCTCCGGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTG
GAGCCCACGCCCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCG
TGGCCCTGGCATGAGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTG
GCCGGCCGCCCACATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATG
CCACTAAGCCAACGTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTG
CCTCTCACACATTTCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCG
TCTGGGCAAGAGGAAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCAC
ACACACAAATTATTCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCA
TCACTGAGAGCCCGACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCT
CAGGGCCCTGTGCCAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAG
TCCTGGCCCCCTCGTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCC
AACAGCCCAGCAAGAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGG
AGCTGCTAATTGGCAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAG
CTTTCCCCAGGGTGACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCC
GAAGCAGTGTTTGGAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCG
GGTGCAGGAAGGGCCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCAC
ATAGTTTAGGTCCTGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGA
TGGTGCAAAAGCAATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAAC
CCATTGTAAATTGAAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCAC
GATGGGTTTCTCCGGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTG
TCTCAGGCAACCTGGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCA
AAGCACCCCCGCTTTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTG
GCCCTGCGGGGTGTGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCC
CACCCTGGGCCTGGGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAG
CAGATCCCGCGATGGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTC
TCACTA

hide sequence

RefSeq Acc Id:

XM_011525370 ⟹ XP_011523672

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,525,182 - 28,538,900 (+)	NCBI

Sequence:

show sequence

AAGCTGGCAGCTTCCCAGAGGCTCCTGAGTCAGGATTCCAGTGTGTGACTTCTCACTGTTTGTT
TAAATGTCCAGAAACTCCAGCCAGACCTACACACCCATATGCAAATGTGACAAGAAAAACACAT
TCCAGAGGCCAAGGGAAAGGGTTTGGGGAGGAGCCATAGTACACAGTTTTTCCCTCCCCAGCCT
TAGCATACAGAGTTGAGAGAGGACTTTAAGTGTGGAGGGACCCTTCCTGGCCCCATTCTTTGCC
CAGAGTGGGGCCTGGGTGTATTCCTGGAAATACCTTGGAAGGTTAACATGTCCTTCCATAGCCT
GACCTCCATAAGCGGCGTGACCCTGGACAAGTCTTAACGTCTCTGAGCCTCATCTGAAAAGGTT
CAGAGGTCAAAGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCC
CTTGCAGCATATGTACTGCTCCTCCCAGCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGC
TACCCCATACCCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCA
CCGATGGGCACCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAGCATCCTCATCTTCATGGC
CCTTAAGAACAGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTTATGACGGAGCAC
TTTCCTTACTTCAAGACAGCACCCGATGGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCA
ACAAGTGCTTCGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGC
CCTCAATCCGGCCAAGATCGACAAGATGCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCC
ATTGCTGTGCGCAAAAGCATGGCCAAGCCAGAAGAGCTGGACAGCCTCATTGGAGACAAGAGAG
AAAAGCTGGGCTCCCCACTCCTGGGCTGTCCGCCCCCTGGGCTGTCCGGCTCAGGCCCCATCCG
GCCCCTGGCACCCCCAGCTGGCCTCTCCCCACCACTGCACTCACTCCACCCAGCTCCAGGCCCC
ATTCCTGGCAAGAACCCCCTGCAGGACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGA
CATACTTGCACCTCTCACCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCC
GGACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCAC
ACCCCACCCAGCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACA
CCCTGCTGCCAGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTT
CGACTTCCAGGGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTA
CTGGTGACCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCC
CCCCTGGGCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGG
TGGCTCCGGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAG
CCCACGCCCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGG
CCCTGGCATGAGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCC
GGCCGCCCACATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCA
CTAAGCCAACGTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCT
CTCACACATTTCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCT
GGGCAAGAGGAAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACA
CACAAATTATTCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCA
CTGAGAGCCCGACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAG
GGCCCTGTGCCAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCC
TGGCCCCCTCGTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAAC
AGCCCAGCAAGAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGC
TGCTAATTGGCAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTT
TCCCCAGGGTGACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAA
GCAGTGTTTGGAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGT
GCAGGAAGGGCCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATA
GTTTAGGTCCTGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGG
TGCAAAAGCAATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCA
TTGTAAATTGAAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGAT
GGGTTTCTCCGGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCT
CAGGCAACCTGGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAG
CACCCCCGCTTTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCC
CTGCGGGGTGTGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCAC
CCTGGGCCTGGGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAG
ATCCCGCGATGGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCA
CTA

hide sequence

RefSeq Acc Id:

XM_017025229 ⟹ XP_016880718

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

ACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCCTCCGGGCAAGGGGAAGCTGATATCATAATTA
TTGGCTCACCTGGCAGCTGCCTCCCCTCACCTGATGTCAGCACAGACACAGGACGGCCGAGCTG
ACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCCGGGCCCCCACGCCGACCTGCTTC
ACTGAGCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCACGCTGCCGGGCC
CCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTCCCAGGCTCCCC
TGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACGGCCCTCCAGAG
AGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGAGCAAGTCCAGG
GCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGACAAGTATCCTGG
CTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCAGCCACGCGCCC
TTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGACCACCCTGGCCC
TCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAGATCCCAGTGGACGT
GGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGTGTAACGGGCTCCCCTAC
CCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTCAGAGGTCAAAGTCAAGCCCCCAGTTC
TGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGCTCCTCCCA
GCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGGGCTCCTCA
CACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCTCTTCCCAA
AACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCT
TCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAGCACCCGAT
GGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACA
AATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGAT
GCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAG
CCAGGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAGC
TGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGCCACAG
TGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTGCCAGATGGA
GACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGACTTCCAGGGAAACC
TGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGACCTCATCCCC
GACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGGGCCCTGTCTG
ACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCCGGGGCACTGG
GTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGCCCCCCACGGC
CCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGCATGAGCTGTG
CCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCCCACATCGGGC
TCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCCAACGTGTGTG
TCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACACATTTCTGCCA
CGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAGAGGAAAATGC
CCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAATTATTCAGATG
TACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAGCCCGACTTCG
TTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTGTGCCAGGCCA
AAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCCCTCGTCATTT
TCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAGCAAGAAGGAG
GAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAATTGGCAGCACC
CACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAGGGTGACATAC
AGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGTTTGGAAAAGC
CCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAAGGGCCCCCTC
CAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGGTCCTGGCTTA
ACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAAGCAATACACA
TTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAATTGAAACCAC
CGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTCTCCGGATGTA
GCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAACCTGGGCATT
CAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCCGCTTTGACTG
CTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGGGTGTGGCCCA
GGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGCCTGGGGGTGA
CAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGCGATGGCTTGT
CATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_017025230 ⟹ XP_016880719

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,538,900 (+)	NCBI

Sequence:

show sequence

ACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCCTCCGGGCAAGGGGAAGCTGATATCATAATTA
TTGGCTCACCTGGCAGCTGCCTCCCCTCACCTGATGTCAGCACAGACACAGGACGGCCGAGCTG
ACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCCGGGCCCCCACGCCGACCTGCTTC
ACTGAGCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCACGCTGCCGGGCC
CCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTCCCAGGCTCCCC
TGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACGGCCCTCCAGAG
AGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGAGCAAGTCCAGG
GCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGACAAGTATCCTGG
CTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCAGCCACGCGCCC
TTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGACCACCCTGGCCC
TCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAGATCCCAGTGGACGT
GGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGTGTAACGGGCTCCCCTAC
CCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTCAGAGGTCAAAGTCAAGCCCCCAGTTC
TGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGCTCCTCCCA
GCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGGGCTCCTCA
CACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCTCTTCCCAA
AACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCT
TCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAGCACCCGAT
GGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACA
AATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGAT
GCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAG
CCAGGAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTACTGGTGA
CCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGCTTCCCCCCTGG
GCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCGGGCAGTGGTGGCTCC
GGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTTATGGAGCTGGAGCCCACGC
CCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCCAGCTCCAAGCCCGTGGCCCTGGC
ATGAGCTGTGCCCAGCTTCGTCAGCTCCAGCGTTTGCCTGGTCTGGAAGTCCTGGCCGGCCGCC
CACATCGGGCTCACCTTAAAGGTCAAGGAAGGAAAATACTACCTGTCCCCTATGCCACTAAGCC
AACGTGTGTGTCAGCTGGTAGCTGGGGGCGCAGAGGACATCACCTGGGGTGCTGCCTCTCACAC
ATTTCTGCCACGTGGTGGCCCAGCTCCTCACCCAGGGCCCCCAAAGAGCAAGCGTCTGGGCAAG
AGGAAAATGCCCTGTCCCTAGCTCACACTCATCCACACTTAAGCCCTCGTGCACACACACAAAT
TATTCAGATGTACACCCACCCACATATCTTACAGCCAGAGGAACCAGCACTCCATCACTGAGAG
CCCGACTTCGTTTCTGGGGCAACTGAGAGCTGAGCGCTTTGCTTACCAAAAGCTCAGGGCCCTG
TGCCAGGCCAAAGATCCCCCCAGACCCCCATTCTGACATCCACATGCTCTGCAGTCCTGGCCCC
CTCGTCATTTTCTTTCCCAGAAGCGCCCTGTATTTATTCCCCCATCTTCATCCCAACAGCCCAG
CAAGAAGGAGGAGACAGAGAGCTCCTCCCTGGGTTGTCTGTGGACCCCCCCAGGAGCTGCTAAT
TGGCAGCACCCACTCAGCCATTCTCTACCCATCCTTAGTACATGCTCTGTCCAGCTTTCCCCAG
GGTGACATACAGAAGGGGCAACATCTACCCGGGCACCAAACTGAGCCCAATTCCGAAGCAGTGT
TTGGAAAAGCCCTTGCCCTCGGAAACTTGAACATGTCCTTTTTCCCCAGTCCCGGGTGCAGGAA
GGGCCCCCTCCAGGTCACCACAATCTCACTCCTCCTCCAGAAAGAAAAGTTCACATAGTTTAGG
TCCTGGCTTAACTCTACTTATGATGGTTCAACTTACACTTTTTCAACTTTAAGATGGTGCAAAA
GCAATACACATTCAGTATGTTCCTCGACTTAGGATGCGGTTATGTCCGATAAACCCATTGTAAA
TTGAAACCACCGAAAGTCAAAAACCACTTTCGACTTACGATGTTTCCCACTCACGATGGGTTTC
TCCGGATGTAGCCCCATCATAAGTTGAGGAGCACCTGTTAGTTACTTCCAACTGTCTCAGGCAA
CCTGGGCATTCAGGAGAAAAGCCTGGCACAGGGTGACAGGGAAGCACCCATGCAAAGCACCCCC
GCTTTGACTGCTTGGCAGACCTAGGGTGCCCGGGAAGCACAAGGGATACCCTTGGCCCTGCGGG
GTGTGGCCCAGGTGCCTGCCATGAGCCTGACCCCATCGAGGGGGAACCTCAGCCCACCCTGGGC
CTGGGGGTGACAAGAACTTCCACAGGTTGGCCCCAGGCTTATAGGAGGCATAAGCAGATCCCGC
GATGGCTTGTCATTGTCCCCTGTCCTGGAACAATAAAGCAAGTGCCTTGTGGTCTCACTA

hide sequence

RefSeq Acc Id:

XM_017025231 ⟹ XP_016880720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,348 - 28,535,109 (+)	NCBI

Sequence:

show sequence

ACCTTTCTCTTCTCCCCGTTTTGGCGCAGCCCCTCCGGGCAAGGGGAAGCTGATATCATAATTA
TTGGCTCACCTGGCAGCTGCCTCCCCTCACCTGATGTCAGCACAGACACAGGACGGCCGAGCTG
ACGGACTGACAGACGGACAGAGCTCCTGGCCCCCCAGACCCGGGCCCCCACGCCGACCTGCTTC
ACTGAGCAGGACTGGGTGATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCACGCTGCCGGGCC
CCACCAGACTGGAGGGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTCCCAGGCTCCCC
TGCCCCACAGAGTAAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACGGCCCTCCAGAG
AGGACACCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGAGCAAGTCCAGG
GCCACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGACAAGTATCCTGG
CTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCAGCCACGCGCCC
TTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGACCACCCTGGCCC
TCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAGATCCCAGTGGACGT
GGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGGTGTAACGGGCTCCCCTAC
CCCAGCCAGGAGCATGGCCCCCAAGTCCTGCAGGGTTCAGAGGTCAAAGTCAAGCCCCCAGTTC
TGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTGCAGCATATGTACTGCTCCTCCCA
GCCCCCCTTCCACCAGTACTCGCCAGGTGGTGGCAGCTACCCCATACCCTACCTGGGCTCCTCA
CACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGCACCAGCCTCTCTTCCCAA
AACCCATCTATTCCTACAGCATCCTCATCTTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCT
TCCCGTCAGCGAGATCTACAATTTTATGACGGAGCACTTTCCTTACTTCAAGACAGCACCCGAT
GGCTGGAAGAATTCTGTCCGGCACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACA
AATCAGGAAGTTCCTCCCGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGAT
GCAAGAGGAGCTGCAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAG
CCAGCCGGACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCT
GCCCACACCCCACCCAGCCACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAG

hide sequence

RefSeq Acc Id:

XM_047436939 ⟹ XP_047292895

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,523,941 - 28,538,900 (+)	NCBI

RefSeq Acc Id:

XM_054317551 ⟹ XP_054173526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317552 ⟹ XP_054173527

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317553 ⟹ XP_054173528

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317554 ⟹ XP_054173529

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,466,557 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317555 ⟹ XP_054173530

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317556 ⟹ XP_054173531

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317557 ⟹ XP_054173532

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,468,192 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317558 ⟹ XP_054173533

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317559 ⟹ XP_054173534

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,467,801 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317560 ⟹ XP_054173535

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,467,801 - 29,481,520 (+)	NCBI

RefSeq Acc Id:

XM_054317561 ⟹ XP_054173536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	29,449,365 - 29,477,729 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001356298	(Get FASTA)	NCBI Sequence Viewer
	NP_003584	(Get FASTA)	NCBI Sequence Viewer
	XP_011523660	(Get FASTA)	NCBI Sequence Viewer
	XP_011523661	(Get FASTA)	NCBI Sequence Viewer
	XP_011523664	(Get FASTA)	NCBI Sequence Viewer
	XP_011523669	(Get FASTA)	NCBI Sequence Viewer
	XP_011523670	(Get FASTA)	NCBI Sequence Viewer
	XP_011523671	(Get FASTA)	NCBI Sequence Viewer
	XP_011523672	(Get FASTA)	NCBI Sequence Viewer
	XP_016880718	(Get FASTA)	NCBI Sequence Viewer
	XP_016880719	(Get FASTA)	NCBI Sequence Viewer
	XP_016880720	(Get FASTA)	NCBI Sequence Viewer
	XP_047292895	(Get FASTA)	NCBI Sequence Viewer
	XP_054173526	(Get FASTA)	NCBI Sequence Viewer
	XP_054173527	(Get FASTA)	NCBI Sequence Viewer
	XP_054173528	(Get FASTA)	NCBI Sequence Viewer
	XP_054173529	(Get FASTA)	NCBI Sequence Viewer
	XP_054173530	(Get FASTA)	NCBI Sequence Viewer
	XP_054173531	(Get FASTA)	NCBI Sequence Viewer
	XP_054173532	(Get FASTA)	NCBI Sequence Viewer
	XP_054173533	(Get FASTA)	NCBI Sequence Viewer
	XP_054173534	(Get FASTA)	NCBI Sequence Viewer
	XP_054173535	(Get FASTA)	NCBI Sequence Viewer
	XP_054173536	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAG36604	(Get FASTA)	NCBI Sequence Viewer
	CAA72416	(Get FASTA)	NCBI Sequence Viewer
	CAA72417	(Get FASTA)	NCBI Sequence Viewer
	EAW51092	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000226247
	ENSP00000226247.2
	ENSP00000462159.2
	ENSP00000464645
	ENSP00000464645.1
GenBank Protein	O15353	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003584 ⟸ NM_003593

- UniProtKB:

B2R9Q7 (UniProtKB/Swiss-Prot), O15352 (UniProtKB/Swiss-Prot), O15353 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRM
APQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVR
HNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSL
IGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTP
SCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPA
RTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQP
PPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSP
SSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523660 ⟸ XM_011525358

- Peptide Label:

isoform X1

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQR
MAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV
RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDS
LIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHT
PSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSP
ARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQ
PPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLS
PSSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523670 ⟸ XM_011525368

- Peptide Label:

isoform X7

- Sequence:

show sequence

MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSY
SILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSS
RKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGL
SGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPP
QPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAI
NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGD
LAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523661 ⟸ XM_011525359

- Peptide Label:

isoform X1

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQR
MAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV
RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDS
LIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHT
PSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSP
ARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQ
PPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLS
PSSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523664 ⟸ XM_011525362

- Peptide Label:

isoform X2

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSHAGFSCSSFVSDGPPERTPSLPP
HSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRP
FHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGP
QVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRM
APQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVR
HNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSL
IGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTP
SCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPA
RTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQP
PPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSP
SSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523671 ⟸ XM_011525369

- Peptide Label:

isoform X7

- Sequence:

show sequence

MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSY
SILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSS
RKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGL
SGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPP
QPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAI
NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGD
LAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523672 ⟸ XM_011525370

- Peptide Label:

isoform X7

- Sequence:

show sequence

MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSY
SILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSS
RKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGL
SGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPP
QPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAI
NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGD
LAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_011523669 ⟸ XM_011525367

- Peptide Label:

isoform X6

- Sequence:

show sequence

MEKSSRDTQQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSH
YQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDG
WKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKP
EELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDL
LMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLL
AEPSPARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSS
MPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGP
SVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_016880718 ⟸ XM_017025229

- Peptide Label:

isoform X4

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQR
MAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV
RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPGLAPP
GPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDL
DAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSG
AGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_016880719 ⟸ XM_017025230

- Peptide Label:

isoform X5

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQR
MAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV
RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPGNLWE
QLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDL
HLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

hide sequence

RefSeq Acc Id:

XP_016880720 ⟸ XM_017025231

- Peptide Label:

isoform X8

- Sequence:

show sequence

MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLP
PHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKR
PFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHG
PQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQR
MAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV
RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPAGRAP

hide sequence

RefSeq Acc Id:	NP_001356298 ⟸ NM_001369369
- UniProtKB:	O15353 (UniProtKB/Swiss-Prot), B2R9Q7 (UniProtKB/Swiss-Prot), O15352 (UniProtKB/Swiss-Prot)

Ensembl Acc Id:

ENSP00000462159 ⟸ ENST00000577936

Ensembl Acc Id:

ENSP00000464645 ⟸ ENST00000579795

Ensembl Acc Id:

ENSP00000226247 ⟸ ENST00000226247

RefSeq Acc Id:	XP_047292895 ⟸ XM_047436939
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054173527 ⟸ XM_054317552
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173528 ⟸ XM_054317553
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173526 ⟸ XM_054317551
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173530 ⟸ XM_054317555
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054173531 ⟸ XM_054317556
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054173533 ⟸ XM_054317558
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054173536 ⟸ XM_054317561
- Peptide Label:	isoform X8

RefSeq Acc Id:	XP_054173529 ⟸ XM_054317554
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054173534 ⟸ XM_054317559
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054173535 ⟸ XM_054317560
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054173532 ⟸ XM_054317557
- Peptide Label:	isoform X6

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15353-F1-model_v2	AlphaFold	O15353	1-648	view protein structure

Promoters

RGD ID:

7234359

Promoter ID:

EPDNEW_H22925

Type:

initiation region

Name:

FOXN1_2

Description:

forkhead box N1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H22926 EPDNEW_H22927

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,239 - 28,506,299	EPDNEW

RGD ID:

7234361

Promoter ID:

EPDNEW_H22926

Type:

multiple initiation site

Name:

FOXN1_1

Description:

forkhead box N1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H22925 EPDNEW_H22927

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,353 - 28,506,413	EPDNEW

RGD ID:

7234365

Promoter ID:

EPDNEW_H22927

Type:

multiple initiation site

Name:

FOXN1_3

Description:

forkhead box N1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H22925 EPDNEW_H22926

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	28,506,549 - 28,506,609	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12765	AgrOrtholog
COSMIC	FOXN1	COSMIC
Ensembl Genes	ENSG00000109101	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000226247	ENTREZGENE
	ENST00000226247.2	UniProtKB/Swiss-Prot
	ENST00000577936.2	UniProtKB/Swiss-Prot
	ENST00000579795	ENTREZGENE
	ENST00000579795.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000109101	GTEx
HGNC ID	HGNC:12765	ENTREZGENE
Human Proteome Map	FOXN1	Human Proteome Map
InterPro	FH_FOXN1	UniProtKB/Swiss-Prot
	Fork_head_dom	UniProtKB/Swiss-Prot
	FOXN1_4	UniProtKB/Swiss-Prot
	TF_fork_head_CS_2	UniProtKB/Swiss-Prot
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:8456	UniProtKB/Swiss-Prot
NCBI Gene	8456	ENTREZGENE
OMIM	600838	OMIM
PANTHER	FORKHEAD BOX PROTEIN N1	UniProtKB/Swiss-Prot
	FORKHEAD BOX PROTEIN N1	UniProtKB/Swiss-Prot
Pfam	Forkhead	UniProtKB/Swiss-Prot
PharmGKB	PA37368	PharmGKB
PRINTS	FORKHEAD	UniProtKB/Swiss-Prot
PROSITE	FORK_HEAD_2	UniProtKB/Swiss-Prot
	FORK_HEAD_3	UniProtKB/Swiss-Prot
SMART	SM00339	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot
UniProt	B2R9Q7	ENTREZGENE
	FOXN1_HUMAN	UniProtKB/Swiss-Prot
	J3KRT9_HUMAN	UniProtKB/TrEMBL
	O15352	ENTREZGENE
	O15353	ENTREZGENE
UniProt Secondary	B2R9Q7	UniProtKB/Swiss-Prot
	O15352	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-05	FOXN1	forkhead box N1	RONU	Rowett nude	Data merged from RGD:1345670	737654	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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